Genetics – NIGMS Home

January 11, 2022 medical

Why do scientists study the genes of other organisms?

All living things evolved from a common ancestor. Therefore, humans, animals, and other organisms share many of the same genes, and the molecules made from them function in similar ways.

Scientists have found many genes that have been preserved through millions of years of evolution and are present in a range of organisms living today. They can study these preserved genes and compare the genomes of different species to uncover similarities and differences that improve their understanding of how human genes function and are controlled. This knowledge helps researchers develop new strategies to treat and prevent human disease. Scientists also study the genes of bacteria, viruses, and fungi for solutions to prevent or treat infection. Increasingly, these studies are offering insight into how microbes on and in the body affect our health, sometimes in beneficial ways.

Increasingly sophisticated tools and techniques are allowing NIGMS-funded scientists to ask more precise questions about the genetic basis of biology. For example, theyre studying the factors that control when genes are active, the mechanisms DNA uses to repair broken or damaged segments, and the complex ways traits are passed to future generations. Another focus of exploration involves tracing genetic variation over time to detail human evolutionary history and to pinpoint the emergence of disease-related attributes. These areas of basic research will continue to build a strong foundation for more disease-targeted studies.

Genetics: Introduction, law of inheritance and Sex Determination

January 11, 2022 medical

Genetics is a branch of the biology involved with the studyheredity, its biological process, the study of genes, genome, cell cycle,heredity,inheritsgenesand lot more.

The exploration of the working and major codes of variation and heredity is termed as Genetics. The groundwork on which heredity stands is known as inheritance. It is defined as the procedure by which characteristics are handed down from one generation to the other. Gregor Johann Mendel is known as the Father of Modern Genetics for his discoveries on the basic principles of heredity.

Variation, as the name suggests is the amount of dissimilarity that exists in between children and their parentages. It can be determined to keep in view the behaviouristic, cytological, physiological, and morphological characters of individuals fitting into similar species.

Some of the major reasons that variation are

Let us have a detailed look at genetics notes to learn about genes and the principle of inheritance.

Garden Pea (Pisum Sativum) was the plant that Mendel experimented on for 7 years to get to the point to propose the laws of inheritance in live creatures. Mendel carefully chose seven distinct characteristics of Pisum Sativum for the investigation concerning hybridization. Mendel used true-breeding lines i.e. those that go through constant self-pollination and display steady characteristic heritance.

Genetics Definition & Meaning – Merriam-Webster

January 11, 2022 medical

1 : a branch of biology that deals with the heredity and variation of organisms

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Genetics

Why Shares of Fulgent Genetics Nearly Doubled in 2021 – Motley Fool

January 11, 2022 medical

What happened

Shares of diagnostic testing company Fulgent Genetics (NASDAQ:FLGT) were up 93% last year, according to S&P Global Market Intelligence. The unpredictability of COVID took shareholders on a journey through several peaks and valleys on the way to that gain. The roller coaster has continued into 2022 with the stock down nearly 20% year to date already.

Much of the volatility can be blamed on the waves of coronavirus infections. Naturally, the need for testing rises and falls with cases. Management raised its full-year guidance when it reported first-quarter results. It followed that by retracting the projected increase after the second quarter. In the most recent report, guidance rocketed higher once again. That's enough to give any analyst whiplash.

Image source: Getty Images.

All told, Fulgent administered almost 11 million billable tests between October 2020 and September 2021. According to company guidance, the result will be year-over-year revenue and earnings-per-share growth of 121% and 64%, respectively, for 2021.

Meanwhile, Fulgent's smaller core business keeps growing. It has used some of the $570 million in trailing-12-month earnings to expand its offerings and international exposure. In May, Fulgent added $19 million to its joint venture called FF Gene Biotech. The Chinese entity was formed in 2017.

It followed that by announcing a partnership with Helio Health -- a maker of blood-based diagnostics for early cancer detection. In November, the companies released positive data for a test to detect liver cancer. That test is currently in clinical trials both in the U.S. and China.

Finally, Fulgent acquired CSI Laboratories, a deal that helps it enter the market for testing tumors and cancer cells after a patient has been diagnosed. CSI Laboratories comes with the benefit of existing relationships with insurers, something Fulgent CEO Ming Hsieh has talked extensively about.Leveraging those relationships could accelerate the pace of growth for Fulgent's core genetic testing business.

That core segment posted revenue of $36.5 million in 2020 and will produce an estimated $115 million in 2021. Although those sales pale in comparison with the COVID business, the growth and potential make it harder to dismiss Fulgent's dirt-cheap valuation as simply the result of unsustainable COVID revenue. And shares are dirt cheap.

Before the pandemic, Fulgent had traded with a price-to-sales (P/S) ratio as low as 2.7. The current $2.4 billion market capitalization is only 2.6 times management's estimated $930 million in 2021 revenue. Of course, Fulgent is also producing a lot of profit. If you remove the $470 million in cash the company had on its balance sheet as of Sept. 30, shares are now trading at only 4.3 times what management says it will earn for 2021. It's rare to find a stock trading that cheap.

A skeptic might say 2021 sales are significantly higher thanks to testing for the SARS-CoV-2 virus. And that number could fall off dramatically if the virus, or the desire to test for it, wanes. That's true. However, the continued growth of its core business should give investors the confidence to focus on Fulgent's long-term efforts to be a bigger part of the genetic testing industry.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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Why Shares of Fulgent Genetics Nearly Doubled in 2021 - Motley Fool

Genetics

Opinion | The Benefits and Pitfalls of Prenatal Genetic Tests – The New York Times

January 11, 2022 medical

Lee CooperArlington, Mass.

To the Editor:

As a practicing reproductive geneticist for almost 20 years, I was pleased to read this critical piece on noninvasive prenatal testing, or NIPT. It is important to understand its history to make sense of our current situation.

A highly accurate prenatal test for Down syndrome had been the holy grail for decades. The goal was to help pregnant patients avoid a risky procedure chorionic villus sampling (C.V.S.) or amniocentesis. Older studies from the 1980s showed a risk of miscarriage from these procedures ranging from 1 in 100 to 1 in 200. However, recent studies show these procedures are quite safe, with a risk of pregnancy loss of approximately 1 in 1,000 for most patients.

If these definitive tests are relatively safe, why has noninvasive prenatal testing become the first-line test for most patients despite their flaws? The answer: direct to consumer marketing and direct to obstetrician marketing.

Marta C. KolthoffPittsburghThe writer is director of medical genetics at West Penn Hospital.

To the Editor:

This article is a very important in-depth look at the misleading and ambiguous results that come from prenatal testing. As a fourth-year medical student, I thought myself abundantly prepared for the terrain of prenatal testing during my first pregnancy. I navely took a prenatal test, with no prior counseling on the false positivity rates. When I received a high-risk result via a message from my doctor, I was stunned.

Even with my personal connections to genetic counselors and familiarity with the science behind these tests, after reading the fine print of the test, visiting the test makers website and many hours of reading scientific papers, I was left confused. After waiting until 16 weeks for an amniocentesis and another two weeks for the results, I was told the test had become contaminated and would need to be rerun.

Thus, after more than 20 weeks I am still living in the unknown, in an area where we want answers that technology is not yet sophisticated enough to give. It is imperative that practitioners educate patients about these limitations before testing.

Penina KriegerNew York

To the Editor:

I am concerned by the appearance of this article at a time when public trust in medical screening is more important than ever. Some readers might see this article and say to themselves, I guess I cant trust any medical screens now. That would be the wrong conclusion.

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Opinion | The Benefits and Pitfalls of Prenatal Genetic Tests - The New York Times

Genetics

Cracking the Genetic Code of the Lychee – Modern Farmer

January 11, 2022 medical

Theres more to a lychee than the sweet, delicate flavor of the flesh beneath its scaly pink-red skin. The tropical fruit also has a rich agricultural tale to tell.

While lychee is not widely grown in North America, its been a fixture in Chinese agriculture for more than 2,000 years. China remains the largest producer of the crop, with it being a central source of income for many farmers in the countrys southern region. The FAO estimates that the Asia-Pacific region is responsible for more than 95 percent of the worlds production of lychees.

A team of scientists has recently decoded the tropical fruits genetics and say their findings hint upon ways to improve and sustain the crops future production. The research, published this month in Nature Genetics, determined that the lychees agricultural origins stemmed from two separate domestication events in the Chinese provinces of Yunnan and Hainan. They reached that conclusion by using the popular Fei Zi Xiao lychee as their reference genome, comparing its genes to about 70 other wild and farmed lychee cultivars. This allowed the researchers to map out the lychees genetic evolution and trace its paths back to the first instances of it being farmed.

One key finding was a genetic deletion, or a missing chunk of DNA, near two genes associated with flowering. The mutation controls when and how long a lychee tree flowers. It explains the reason why the original Yunnan varietywhich has the mutationis an early flowering plant, while the Hainan varietywhich doesnt have itis late flowering. A hybrid of both varieties, called the Fei Zi Xiao lychee, flowers early in June, but not as early as the original Yunnan lychees and not as late as the original Hainan variety.

Currently, most farmed lychees ripen during a short window, from early June to mid July. Once picked, the fruit only lasts around two to three days. But having the genetic information to better understand when the plant will flower, and then fruit, researchers say it could lead to different fruiting and harvesting possibilities in time to control time periods, extending that availability.

Why is this important? This is a resource for the future of the lychee, says Victor Albert, a University of Buffalo evolutionary biologist and senior author of the study. To have its genome means that we can understand everything from the fruiting differences in the variety of lychees that exist, but we can also determine and find traits like tastes, fragrances, colors and pathogen resistance.

The sequenced genome of the lychee, Albert explains, will be especially key to preserving the crop as part of Chinas agriculture industry in the context of climate change. When and if temperatures shift, or when environmental stressors take their toll on agriculture, finding or breeding varieties with preferable genetic traits will be the tactic taken to preserve the plants future. He adds that the genetic information could also help relatives of the lychee, such as the maple tree, navigate agricultural or environmental challenges.

Next, the scientists want to sequence other genomes of those related species. The branch of researchers based in China also hopes to further research the studys findings, observing how the mutation or lack thereof controls the plants flowering and fruiting time.

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Cracking the Genetic Code of the Lychee - Modern Farmer

Genetics

Worldwide Predictive Genetics Industry to 2026 – Rising Investment and R&D in Gene Manipulation Presents Opportunities – PRNewswire

January 11, 2022 medical

DUBLIN, Jan. 6, 2022 /PRNewswire/ --The "Predictive Genetics Market Research Report by Type, by Demographics, by Test Type, by Setting Type, by Application, by Region - Global Forecast to 2026 - Cumulative Impact of COVID-19" report has been added to ResearchAndMarkets.com's offering.

The Global Predictive Genetics Market size was estimated at USD 761.76 million in 2020 and expected to reach USD 897.21 million in 2021, at a CAGR of 18.11% to reach USD 2,068.85 million by 2026.

Market Statistics:

The report provides market sizing and forecast across five major currencies - USD, EUR GBP, JPY, and AUD. It helps organization leaders make better decisions when currency exchange data is readily available. In this report, the years 2018 and 2019 are considered historical years, 2020 as the base year, 2021 as the estimated year, and years from 2022 to 2026 are considered the forecast period.

Competitive Strategic Window:

The Competitive Strategic Window analyses the competitive landscape in terms of markets, applications, and geographies to help the vendor define an alignment or fit between their capabilities and opportunities for future growth prospects. It describes the optimal or favorable fit for the vendors to adopt successive merger and acquisition strategies, geography expansion, research & development, and new product introduction strategies to execute further business expansion and growth during a forecast period.

FPNV Positioning Matrix:

The FPNV Positioning Matrix evaluates and categorizes the vendors in the Predictive Genetics Market based on Business Strategy (Business Growth, Industry Coverage, Financial Viability, and Channel Support) and Product Satisfaction (Value for Money, Ease of Use, Product Features, and Customer Support) that aids businesses in better decision making and understanding the competitive landscape.

Market Share Analysis:

The Market Share Analysis offers the analysis of vendors considering their contribution to the overall market. It provides the idea of its revenue generation into the overall market compared to other vendors in the space. It provides insights into how vendors are performing in terms of revenue generation and customer base compared to others. Knowing market share offers an idea of the size and competitiveness of the vendors for the base year. It reveals the market characteristics in terms of accumulation, fragmentation, dominance, and amalgamation traits.

Company Usability Profiles:

The report profoundly explores the recent significant developments by the leading vendors and innovation profiles in the Global Predictive Genetics Market, including 23andMe, Color Genomics, CRISPR Therapeutics, Deep Genomics Inc., Editas Medicine, Futura Genetics, Gene by Gene, Intellia Therapeutics, Laboratory Corporation of America, Mapmygenome India, MyDNA, Myriad Genetics, Positive Bioscience, Quest Diagnostics, Inc., and Veritas Genetics.

The report provides insights on the following pointers:1. Market Penetration: Provides comprehensive information on the market offered by the key players2. Market Development: Provides in-depth information about lucrative emerging markets and analyze penetration across mature segments of the markets3. Market Diversification: Provides detailed information about new product launches, untapped geographies, recent developments, and investments4. Competitive Assessment & Intelligence: Provides an exhaustive assessment of market shares, strategies, products, certification, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players5. Product Development & Innovation: Provides intelligent insights on future technologies, R&D activities, and breakthrough product developments

The report answers questions such as:1. What is the market size and forecast of the Global Predictive Genetics Market?2. What are the inhibiting factors and impact of COVID-19 shaping the Global Predictive Genetics Market during the forecast period?3. Which are the products/segments/applications/areas to invest in over the forecast period in the Global Predictive Genetics Market?4. What is the competitive strategic window for opportunities in the Global Predictive Genetics Market?5. What are the technology trends and regulatory frameworks in the Global Predictive Genetics Market?6. What is the market share of the leading vendors in the Global Predictive Genetics Market?7. What modes and strategic moves are considered suitable for entering the Global Predictive Genetics Market?

Key Topics Covered:

1. Preface

2. Research Methodology

3. Executive Summary

4. Market Overview

5. Market Insights5.1. Market Dynamics5.1.1. Drivers5.1.1.1. Increasing use of emerging technologies to gain valuable insights5.1.1.2. Adopted for new and growing class of medical tests, differing in fundamental ways from conventional medical diagnostic tests5.1.1.3. Reduces the risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention5.1.2. Restraints5.1.2.1. Lack of skilled workforce5.1.3. Opportunities5.1.3.1. Need of genetic predisposition DNA testing for type 2 diabetes and5.1.3.2. Rising investment and R&D in gene manipulation5.1.4. Challenges5.1.4.1. Companies' concern over data security and privacy issues5.2. Cumulative Impact of COVID-19

6. Predictive Genetics Market, by Type6.1. Introduction6.2. Predispositional testing6.3. Presymptomatic testing

7. Predictive Genetics Market, by Demographics7.1. Introduction7.2. 35 - 647.3. 65+7.4. <_5_br />8. Predictive Genetics Market, by Test Type8.1. Introduction8.2. Population Screening8.3. Susceptibility

9. Predictive Genetics Market, by Setting Type9.1. Introduction9.2. Clinic9.3. Direct to Consumer9.4. Hospital

10. Predictive Genetics Market, by Application10.1. Introduction10.2. Cancer10.3. Cardiovascular Disease10.4. Genetic Disease

11. Americas Predictive Genetics Market11.1. Introduction11.2. Argentina11.3. Brazil11.4. Canada11.5. Mexico11.6. United States

12. Asia-Pacific Predictive Genetics Market12.1. Introduction12.2. Australia12.3. China12.4. India12.5. Indonesia12.6. Japan12.7. Malaysia12.8. Philippines12.9. Singapore12.10. South Korea12.11. Taiwan12.12. Thailand

13. Europe, Middle East & Africa Predictive Genetics Market13.1. Introduction13.2. France13.3. Germany13.4. Italy13.5. Netherlands13.6. Qatar13.7. Russia13.8. Saudi Arabia13.9. South Africa13.10. Spain13.11. United Arab Emirates13.12. United Kingdom

14. Competitive Landscape14.1. FPNV Positioning Matrix14.1.1. Quadrants14.1.2. Business Strategy14.1.3. Product Satisfaction14.2. Market Ranking Analysis14.3. Market Share Analysis, By Key Player14.4. Competitive Scenario14.4.1. Merger & Acquisition14.4.2. Agreement, Collaboration, & Partnership14.4.3. New Product Launch & Enhancement14.4.4. Investment & Funding14.4.5. Award, Recognition, & Expansion

15. Company Usability Profiles15.1. 23andMe15.2. Color Genomics15.3. CRISPR Therapeutics15.4. Deep Genomics Inc.15.5. Editas Medicine15.6. Futura Genetics15.7. Gene by Gene15.8. Intellia Therapeutics15.9. Laboratory Corporation of America15.10. Mapmygenome India15.11. MyDNA15.12. Myriad Genetics15.13. Positive Bioscience15.14. Quest Diagnostics, Inc.15.15. Veritas Genetics

16. Appendix

For more information about this report visit https://www.researchandmarkets.com/r/4brzry

Media Contact:

Research and Markets Laura Wood, Senior Manager [emailprotected]

For E.S.T Office Hours Call +1-917-300-0470 For U.S./CAN Toll Free Call +1-800-526-8630 For GMT Office Hours Call +353-1-416-8900

U.S. Fax: 646-607-1907 Fax (outside U.S.): +353-1-481-1716

SOURCE Research and Markets

http://www.researchandmarkets.com

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Genetics

Conservation genetics as a management tool: The five best-supported paradigms to assist the management of threatened species – pnas.org

January 11, 2022 medical

Conservation genetics as a management tool: The five best-supported paradigms to assist the management of threatened species

Yvonne Willi, Torsten N. Kristensen, Carla M. Sgr, Andrew R. Weeks, Michael rsted, Ary A. Hoffmann

Proceedings of the National Academy of Sciences Jan 2022, 119 (1) e2105076119; DOI: 10.1073/pnas.2105076119

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Conservation genetics as a management tool: The five best-supported paradigms to assist the management of threatened species - pnas.org

Genetics

UPDATE – Bionano Genomics Hosts Day 1 of 2022 Symposium with Six Presentations Highlighting the Superior Performance of OGM in Variant Detection for…

January 11, 2022 medical

SAN DIEGO, Jan. 10, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping (OGM) solutions on the Saphyr system and provider of NxClinical, the leading software solutions for visualization, interpretation and reporting of genomic data, hosted today the first of four days of 2022 Symposium, the Companys premiere event showcasing OGM research applications across key clinical areas of constitutional genetic disease, hematologic malignancies, solid tumors and OGM combined with next-generation sequencing (NGS).

Six presentations from leading researchers across North America and Europe kicked off Symposium. Todays event featured six informative speakers from leading researchers across North America and Europe. These presentations covered a wide range of constitutional genetic diseases in pre- and postnatal genetics and offered insight into potential applications in infertility and reproductive medicine. The presenters supported OGM as an effective alternative to traditional workflows such as karyotype, fluorescent in situ hybridization (FISH), chromosomal microarray (CMA) and Southern blot. Research presentations have demonstrated greater sensitivity, better resolution and faster results from OGM workflows compared to traditional methods.

Performance of OGM evaluated in pre- and postnatal samples. Both Dr. Iqbal from University of Rochester Medical Center and Dr. Shirley Heggarty compared the performance of OGM in the evaluation of pre- and postnatal samples with known chromosomal aberrations. These studies found a high concordance of OGM results compared to traditional methods. In addition, OGM was able to identify both unbalanced structural chromosome abnormalities and balanced structural variants (SVs), like translocations and inversions, that chromosomal microarray (CMA) could not.

Capabilities of OGM to measure repeat expansions were evaluated. Dr. Alexander Hoischen specifically explored the capabilities of OGM to map repeat expansions, which can be particularly challenging types of SVs, in subjects with Canvas syndrome and myotonic dystrophy types 1 and 2. The OGM workflow was able to immediately call very large insertions with greater precision than the standard cytogenetic techniques and with 100% concordance. OGM was shown to allow researchers the ability to see more of the genome, while being less time-consuming and labor-intensive than other molecular methodologies like Southern blotting, as Dr. Nikhil Sahajpal discovered. Results from his validation study were 100% concordant with traditional methods and demonstrated a streamlined laboratory workflow for different sample types.

Story continues

The role of OGM as a discovery tool in reproductive disorders including infertility. In addition to pre- and postnatal applications, two speakers, Dr. Laila El-Khattabi and Chaim Jalas, shared how the OGM workflow plays a significant role in their research in infertility and reproductive disorders. In her study, Dr. El-Khattabi used OGM to characterize apparently balanced SVs related to male infertility and identify new genes involved in reproductive disorders. Chaim Jalas shared how OGM used in preimplantation genetic diagnosis can identify structural rearrangements, including balanced translocations and inversions, in embryos prior to transfer, which they indicated could improve pregnancy and delivery rates in an IVF setting.

Among 37 posters appearing in the virtual exhibition hall the top poster per application area selected to compete for best poster of Symposium. In addition to the oral presentations, 37 posters were received and selected for presentation in the virtual exhibition hall. These posters, in the virtual exhibition hall, were voted on by attendees of Symposium and a winner was named in each of four key application areas based on total number of votes. Below are the four poster winners:

Constitutional cytogenomics: Dr. Catherine A. Brownstein, Boston Childrens Hospital

Hematologic malignancies: Dr. Jonathan L. Lhmann, Hannover Medical School

Solid tumors: Dr. Miriam Bornhorst, Childrens National Hospital

OGM + NGS: Dr. Nikhil Sahajpal, Augusta University

Sincere congratulations to our poster winners and thanks to all poster authors for sharing emerging research on OGM from their laboratories, remarked Alka Chaubey, PhD, FACMG, chief medical officer of Bionano. This event is made possible with the enthusiastic participation of the OGM community.

We are thrilled at this strong kick-off to the 2022 Symposium and we are excited about the data shared today by experts from around the world that continues to demonstrate the utility of OGM workflows in variant detection for constitutional genetic diseases, commented Erik Holmlin, PhD, president and chief executive officer of Bionano. Congratulations to the poster winners. We are impressed by all the discoveries our customers are making with OGM towards the goal of elevating human health.

Dont miss Symposium, register now! Symposium registration is open to all and there is no charge for attending this event. Register today at https://www.labroots.com/ms/virtual-event/bngo2022

About Bionano Genomics

Bionano Genomics is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Companys mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. Through its BioDiscovery business, the Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. For more information, visit http://www.bionanogenomics.com, http://www.lineagen.com or http://www.biodiscovery.com.

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the ability for additional data to support the strength of OGM workflows as compared to traditional workflows, the ability and utility of OGM to analyze genomes and reveal answers in genetic disease and cancer research in less time-consuming and less-labor intensive manners than traditional workflows, and the potential for OGM to become part of the standard of care. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape, including the introduction of competitive technologies or improvements in existing technologies; failure of future study results to support those demonstrated during the presentations referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of OGM or our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on managements assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

Media Relations:Michael SullivanSeismic+1 (503) 799-7520michael@teamseismic.com

Genetics

New Videos from the Genetic Support Foundation Educate Viewers on Hereditary Genes – ThurstonTalk

January 11, 2022 medical

The Genetic Support Foundation has created educational videos discussing how understanding family genetics is connected to understanding individual cancer risks. In a partnership with Washington State Department of Health, GSF created a series of videos that include personal stories about family cancer connections and a tutorial on how genes work. The videos walk viewers through gene function and hereditary connections by means of narration and easy to follow diagrams. Viewers will find sincere stories and accessible information on a complex topic.

The first of the three new videos, Family Cancer Stories, produced by Sky Bear Media, gives a view into two families personal walks with cancer. The stories exemplify how both sides of a persons family histories matter when it comes to discovering connections between gene mutations and cancer. Sisters Janet Shimabukuro and Eileen Hugdahl share their story as an example of how cancer from their fathers side had a genetic connection to the female cancer they both experienced. Ive never heard that the male cancers can be linked to the female cancers, shares Shimabukuro in the video. I had no idea, and I just wish that somebody would have told me that. The general public just doesnt have that information and just doesnt know, and it could really save lives.

Participating in the video production was important to both Shimabukuro and Hugdahl. I really want the link between male and female hereditary cancers to become common knowledge, says Shimabukuro. Maybe someone famous will learn about it and share it with the world.

I hope these videos will be helpful, explains Katie Stoll, executive director of the Genetic Support Foundation, in raising awareness about hereditary cancer and will encourage people to follow-up with a genetic counselor if they have a family or personal history of cancer. They have been made with the input from experts in the field of public health, genetics and cancer. People merely looking to update their knowledge of how family genes are passed down will find the videos educational and enlightening. People looking for a tool to help explain the topic to a member of their family, will appreciate their design for varied audiences.

Not only does the video explain how genetic screening helps people identify gene mutations but that learning ones specific risks from the results can help pinpoint treatments. If you can catch anything early, explains Hugdahl in the video, the outcome is so much better. You have this information so you can make the decisions. Instead of having cancer make the decision for you, you can choose to make the decisions. Learning information through her sisters cancer experience and genetic screening, Hugdahl was able to make vital, preventative care choices for herself. My breast cancer would have gone undetected, says Hugdahl. I had a clean mammogram just three monthsprior. My doctor ordered an MRI as soon as he learned I was BRCA2 positive. Finding out saved my life. If we can educate anyone, maybe a person with a lot of cancer in their family, they will see three strong women who had different paths who got through it. We put a face to cancer.

Following the first videos narratives of male and female cancer connections, the second in the series, Genetics and Cancer, tackles the inevitable questions about what DNA is and how genes, mutated genes and cancer operate. An easy to follow, animated series of sketches presents a step-by-step explanation of what genes are, how they operate and how the possibility of a mutation can be inherited.

The third in the set of new videos, Cascade Screening, wraps back around to the Cascade Screening service established between GSF and the Washington State Department of Health. This two-minute video gives an overview of the service and how families not only benefit from the test results, but how the service can connect relatives across the state with genetic counseling services in their area. Cascade screening is one of the best tools we have to efficientlyand accurately identify and contactat-risk family members, says Nikki McCoy who also shares her familys story in the first video. Im gratefulthis free service is available to people in Washington. To use a popular termin the hereditary cancer riskcommunity,knowledge is power,and this video helps spread that knowledge.

The series of three videos carries a wealth of information in a short time frame and is delivered with heartfelt messages. Please talk about your family health history, expresses Shimabukuro. Be open and share. While none of us wants to know we are high risk, that information is highly valuable to a family because early detection is key.

GSF is a nonprofit genetic counseling service assisting people with interpreting DNA test results. Whether the results came from an online company or were the result of testing suggested by a primary care provider after a diagnosis, GSF helps people take that information and map out their family history. The goal is to provide people with a better understanding of how their family history may play a part in their individual diagnosis. A better understanding means being able to make more direct choices in preventative measures or specific treatments.