Hereditary Breast and Ovarian Cancer Syndrome

SAN MATEO, Calif., Jan. 15, 2025 /PRNewswire/ -- Helix, a leader in population genomics and precision health, announced today that TriHealth, Parkview Health and Rochester Regional Health have joined the Helix Research Network. Each health system has committed to enroll 100,000 participants, adding 300,000 participants to the largest and fastest growing precision clinical research network in the world. Through their strategic partnership with Helix, each system is dedicated to making genomics accessible to providers and patients, regardless of their socioeconomic background. Participation is voluntary and provided at no cost to participants. Participants will receive clinical insights that provide an understanding of their potential risk for conditions such as inherited breast and ovarian cancer, colorectal cancer and high cholesterol. These results contribute to informed health management and decision-making. Participating health systems gain access to best practices and streamlined workflows, enabling seamless integration of genetic information into clinical care. These translational resources empower providers to use genetic data effectively for early detection and prevention of diseases in patients. By collaborating, health systems in the Helix Research Network accelerate their learnings and clinical impact, as well as their ability to bring novel clinical trials and translational research to their communities. "Every new member of the Helix Research Network strengthens our ability to drive discoveries that meaningfully impact patient care," said James Lu, M.D., Ph.D., CEO and co-founder of Helix. "The growth of the network underscores the importance of integrating genomics into healthcare and its transformative potential." The Helix Research Network comprises leading health systems across North America, including the Medical University of South Carolina, HealthPartners, Ohio State Wexner Medical Center, and more. More details about these new initiatives will be shared with community members prior to their official launches later this year. To learn more about the Helix Research Network and the work Helix has accomplished with its partners, visit the site here. About Helix: Helix is the leading population genomics and precision health organization. Helix enables health systems, life sciences companies and payers to accelerate the integration of genomic data into patient care and therapeutic development. Learn more at . About TriHealth: TriHealth is hospitals, physicians and the community working together to help people live better. We provide clinical, educational, preventive and social programs through Bethesda North, Bethesda Butler, Good Samaritan and McCullough-Hyde hospitals, and more than 140 other locations throughout Greater Cincinnati. This includes an ambulatory network, physician practices, research division, employer-based health services, hospice care and fitness and health facilities. Learn more at trihealth.com, Facebook.com/TriHealth, @TriHealth on Twitter and at YouTube.com/TriHealth. About Parkview Health: Parkview Health is a nonprofit, community-based health system serving a Northeast Indiana and Northwest Ohio population of more than 1.3 million. With more than 16,000 co-workers, Parkview Health is the region's largest employer. Parkview has been serving the region since its early beginnings as Fort Wayne City Hospital in 1878. Parkview Health was formed in 1995, and its heritage of care and compassion continues today with 14 hospitals and a network of primary care and specialty physicians. Additional information may be found at parkview.com. About Rochester Regional Health: Rochester Regional Health is an integrated health services organization serving the people of Western New York, the Finger Lakes, St. Lawrence County, and beyond. The system includes nine hospitals; primary and specialty practices, rehabilitation centers, ambulatory campuses and immediate care facilities; innovative senior services, facilities and independent housing; a wide range of behavioral health services; and Rochester Regional Health Laboratories and ACM Global Laboratories, a global leader in patient and clinical trials. Rochester Regional Health is the region's second-largest employer. Learn more at RochesterRegional.org. Media Contacts: [email protected] [email protected] [email protected] [email protected] SOURCE Helix WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

Highly Accurate Long-Read Sequencing Data from Revio will Support Germany’s National Genome Initiative and Provide Data to the International Male Infertility ConsortiumMENLO PARK, Calif., Sept. 04, 2024 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced a collaboration with the University Hospital of Münster, to use long-read whole genome sequencing to significantly advance male infertility and rare disease research. By deploying PacBio’s Revio HiFi sequencing system, researchers at Münster will obtain highly accurate genomic data essential for addressing complex genetic issues associated with male infertility, including the Y chromosome. The announcement follows the opening of the University’s Center of Medical Genetics, which will foster Münster’s role in various fields of genetics including familial breast and ovarian cancer and reproductive genetics. Münster’s Medical Center is the first in Germany to use long-read whole genome sequencing in a translational research and diagnostic setting and owns the first Revio funded by the German healthcare system. The data generated by the Revio will contribute to Germany’s GenomeDE Modellvorhaben project to integrate genomic medicine into standard patient care. The results of this study will also extend beyond Germany, supporting research at the International Male Infertility Genomics Consortium, which has connections with 8 other countries. “The Revio system will be pivotal in furthering the University of Münster as a leader in medical genetics. Its ability to navigate complex genetic landscapes, particularly in studying the Y chromosome’s role in male infertility, will provide critical insights that were previously unattainable,” said Professor Tüttelmann, Director of The Center of Medical Genetics, University of Münster. “The male Y chromosome has until recently been a mystery due to its repetitive regions and challenging structural variants. The exceptional accuracy and depth of Revio will allow us to begin unravelling the causes of male infertility. Such insight is invaluable for aging European populations, where fewer children are being born and more pressure is being put on health systems.” The University of Münster will use the Revio to achieve its goal of whole genome sequencing 500 patients with male infertility over the next year. Professor Tüttelmann will also oversee the trio sequencing of rare disease families, where both parents and the affected child are sequenced on the Revio to determine whether disease is carried on the maternal or paternal haplotype. The findings of Münster Clinic’s research will contribute to Germany’s GenomeDE project, which seeks to advance research into the genetic underpinnings of rare diseases, including developmental delay, and cancer. “Our HiFi technology will unlock deeper genomics insights for Professor Tüttelmann’s research into male infertility and we look forward to seeing how the data will advance this understudied area. Supporting Münster’s new Center of Medical Genetics is an important step in PacBio’s continued growth in Europe, and we’re pleased to support the university in achieving its vision of becoming experts in familial cancer and rare disease,” said Neil Ward, General Manager and Vice President EMEA, PacBio. “These are fields of growing importance for Germany and European healthcare systems, and Münster’s research holds great promise for providing answers for patients internationally. Playing a critical role in such influential projects is key to achieving PacBio’s mission to enable the promise of genomics to better human health.” For more information about how PacBio is revolutionizing the field of genomics and to explore the capabilities of the Revio HiFi sequencing system, please visit our website at https://www.pacb.com/revio/. About PacBioPacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio. PacBio products are provided for Research Use Only. Not for use in diagnostic procedures. Forward-Looking Statements This press release may contain "forward-looking statements" within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including in connection with the University of Münster’s anticipated use of Revio, its goal of sequencing 500 male infertility patients, and the use of HiFi technology to unlock deeper genomics insights into male infertility and rare diseases; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in sequencing a large number of genomes; potential product performance and quality issues; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with international operations. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption "Risk Factors." These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available. Contacts Investors:Todd Friedmanir@pacificbiosciences.com Media:pr@pacificbiosciences.com

A record 31 scientific presentations and posters at the 2024 European Society for Human Genetics (ESHG) Annual Conference and 8 scientific presentations and posters at the 2024 American Cytogenomics Conference (ACC) will highlight the application of optical genome mapping (OGM) in genetic disorder, rare disease, and cancer research applicationsBionano will host a sponsored session at ESHG featuring an overview of the Company’s OGM workflow delivered by Bionano’s chief medical officer, Dr. Alka Chaubey, a presentation from Dr. Laura Batlle Masó at Vall d’Hebron Institute of Research (Spain) on OGM’s potential utility in resolving hereditary angioedema (HAE) cases, a presentation from Dr. Bart van der Sanden at Radboud UMC (Netherlands) on how OGM may be useful for the detection of structural variants (SVs) relevant to rare disease, and a presentation from Marlene Ek at Karolinska Institute (Sweden) highlighting OGM’s ability to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods At ACC, a sponsored session will feature Dr. Mike Gallagher, market development manager at Bionano, highlighting OGM’s ability to enhance detection of pathogenic variants and to advance genetic disease research. Dr. Gallagher will also introduce the latest innovations in the OGM workflow, including the Stratys™ system and VIA™ software SAN DIEGO, May 30, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the Company’s robust participation at two upcoming cytogenetics conferences, the 2024 European Society for Human Genetics (ESHG) Annual Conference and the 2024 American Cytogenomics Conference (ACC), with a record 39 scientific presentations and posters across the two conferences that highlight the utility of the Company’s OGM workflow for applications in genetic disease, cancer, and rare disease research and discussing the latest advances to the Company’s suite of products, including the high throughput Stratys system and VIA software. ESHG brings together industry and academic professionals annually to discuss new technologies and advances in the field of human genetics. ESHG sessions will take place June 1-4, 2024 virtually and in Berlin, Germany. ACC is a biennial conference focused on new technologies and advances in the field of cytogenetics. ACC will be held June 2-5, 2024 in Norfolk, Virginia. Bionano will host a sponsored session at ESHG featuring an overview of the Company’s OGM workflow delivered by Bionano’s chief medical officer, Dr. Alka Chaubey, a presentation from Dr. Laura Batlle Masó at Vall d’Hebron Institute of Research (Spain) on OGM’s potential utility in resolving hereditary angioedema (HAE) cases, a presentation from Dr. Bart van der Sanden at Radboud UMC (Netherlands) covering how OGM may be useful for the detection of SVs relevant to rare disease, and a presentation from Marlene Ek at Karolinska Institute (Sweden) highlighting OGM’s ability to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods. At ACC, a sponsored session will feature Dr. Mike Gallagher, market development manager at Bionano, highlighting OGM’s ability to enhance detection of pathogenic variants and to advance genetic disease research. Dr. Gallagher will also introduce the latest innovations in the OGM workflow, including the Stratys system and VIA software. Erik Holmlin, PhD, president and chief executive officer of Bionano, stated, “We are excited to see the progress that the global OGM community is making, which is highlighted by the growth in the number of scientific posters and presentations on OGM from the last time the ESHG and ACC conferences were held. We believe this expansion demonstrates the increased customer adoption of OGM, with routine and repeated utilization for innovative research into genetic disorders, cancer and rare disease.” ESHG scientific presentations and poster sessions: Scientific presentations and poster sessions on OGM at ESHG take place in the exhibition halls unless otherwise noted. Abstract/ Poster NumberTitleAuthorsPresentedP14.015.ADeciphering a complex short size RERE rearrangement: importance of combined approaches for duplication interpretationFauqueux J.June 2, 202410:15-11:15 AM CESTP01.065.AA Canadian lab’s experience using optical genome mapping to clinically genotype hematological neoplasmsHamadeh Z.June 2, 202410:15-11:15 AM CESTP03.025.ACharacterization of a complex rearrangement between three chromosomes in a fetus with skeletal anomalies by optical genome mappingHeinrich U.June 2, 202410:15-11:15 AM CESTP16.077.AAccurate identification of pathogenic structural variants guided by multi-platform comparisonMoeinzadeh M.June 2, 202410:15-11:15 CESTP01.163.BDeciphering the molecular complexity of the IKZF1 plus profile using optical genome mappingLühmann J.June 2, 202416:45-17:45 PM CESTP12.023.BSORD and SORD2P inversion: long read sequencing identifies a novel genetic mechanism underlying inherited neuropathyManini A.June 2, 202416:45-17:45 PM CESTP04.029.BOptical genome mapping facilitates rapid characterization of structural variants in families with developmental eye anomaliesMerepa S.June 2, 202416:45-17:45 PM CESTP01.007.CLarge genomic rearrangement: tandem duplication and triplication in BRCA1 gene causative for hereditary breast and ovarian cancerAldrige Allister B.June 3, 202410:15-11:15 AM CESTP15.102.CEstablishing ultra-rapid genome sequencing in neonatal and pediatric intensive care units in Germany – project Baby LionAuber B.June 3, 202410:15-11:15 AM CESTP14.029.COptical genome mapping of a patient with ring chromosome 3 shows the importance of choosing the proper reference genome for the analysisBurssed B.June 3, 202410:15-11:15 AM CESTP14.025.CPositive predictive value of balanced structural variants reported through short-read genome sequencing: do we need orthogonal confirmation?Chatron N.June 3, 202410:15-11:15 AM CESTP14.013.COptical genome mapping identifies hidden structural variants in 58 undiagnosed rare disease patient-parent triosHoischen A.June 3, 202410:15-11:15 AM CESTP01.160.CDeciphering copy number variations within the complex genomic region of the PMS2 gene using optical genome mappingMaier J.June 3, 202410:15-11:15 AM CESTP12.032.CThe WWOX gene variants detection in patient with cerebellar ataxia using optical genome mappingRutkowska K.June 3, 202410:15-11:15 AM CESTP01.051.CEnhanced cytogenomic analysis of complex karyotype in myelodysplastic syndrome using optical genome mappingValkama A.June 3, 202410:15-11:15 AM CESTP21.065.DAdvancing genetic diagnostics: optical genome mapping’s efficacy in identifying structural variants for autosomal recessive diseasesBeyza Ogutlu O.June 3, 202416:45-17:45 PM CESTP15.079.DBenefits of the analysis of a complex chromosomal rearrangement in the implementation of long read approachesChambon P.June 3, 202416:45-17:45 PM CESTP04.011.DA combined approach of innovative DNA- and RNA-technologies reveals hidden LINE-1/ERV insertion in IQCB1 as causative variant for Senior Løken syndromede Bruijn S.June 3, 202416:45-17:45 PM CESTP01.056.DExome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibilityMantere T.June 3, 202416:45-17:45 PM CESTP15.091.DA multimodal approach to molecular diagnosis in NF1 highlights the need for bespoke analysis in undiagnosed patientsMcAleese-Park E.June 3, 202416:45-17:45 PM CESTP10.021.DOptical genome mapping finally unveils the genetic cause of aniridia and intellectual disability in a 17-year-old after seven years of diagnostic odysseyTelman W.June 3, 202416:45-17:45 PM CESTE-posterOptical genome mapping for comprehensive genomic rearrangement analysisFlunkert J.OnlineE-posterOptical genome mapping: lighting the way in complex clinical casesMonge Lobo I.OnlineE-posterRefining genotype-phenotype correlation in complex chromosomal rearrangements using optical genome mapping – case reportVallova V.OnlineE-posterUnraveling the mysteries of balanced rearrangements: optical genome mapping spotlights BCL11B misregulation in a familial translocationAlcalá San Martín A.OnlineE-posterOptical genome mapping (OGM) allows the characterization of a complex chromosome rearrangement associated with recurrent pregnancy lossTrost D.OnlineE-posterFocus on deletions and duplications identified by optical genome mapping technique in a cohort of 100 patients: comparison with MCADoco-Fenzy M.OnlineRoomTitlePresenterPresentedPoster presentationOptical genome mapping identifies hidden structural variants in previously undiagnosed rare disease cases in Solve-RDvan der Sanden B.June 1, 202419:00-19:15 PM CEST, Room A8Poster presentationMultiomics and deep phenotyping in MECP2 Duplication syndrome: insight into disease severity, expression variability, and nucleic acid therapeuticsPehlivan D.June 1, 202419:45-20:00 PM CEST, Room A8Poster presentationNext generation cytogenetics by optical genome mappingKanagal-Shamanna R.June 3, 202408:30-10:00 AM CEST, Room A2Sponsored sessionInsights into constitutional disorders and beyond: scaling to new heights with optical genome mappingChaubey A., Batlle Masó L., van der Sanden B., Ek M.June 3, 202414:00-15:30 PM CESTRoom New York 3 (Level 1) ACC scientific presentations and poster sessions: Scientific presentations and poster sessions on OGM at ACC take place in the exhibition hall. Poster/PresentationTitlePresenterPresentedExhibitor theater sessionRevolutionizing cytogenomics with optical genome mapping: high-resolution structural variant detection with an elevated sample-to-answer workflowGallagher M.June 3, 202412:15-12:35 PM ESTPoster presentationEnhanced detection of primary oncogenic drivers in pediatric T-lymphoblastic leukemia (T-ALL) by optical genome mapping (OGM)Raca G.June 3, 20242:00-2:15 PM ESTPoster presentationUtility of optical genome mapping as an additional tool to standard cytogenetic workup in hematological malignanciesToruner G.June 3, 20242:15-2:30 PM ESTPoster presentationA curated research catalogue of structural variation from 809 postnatal cases detected by optical genome mappingPang A.June 3, 20244:00-4:15 PM ESTPoster presentationA search for genetic determinants in neural tube defects using optical genome mappingSahajpal N.June 3, 20244:15-4:30 PM ESTPoster presentationCross-comparison of optical genome mapping and chromosomal microarray data using VIA softwareYu J.June 3, 20244:30-4:45 PM ESTPoster hallEfficient hematological malignancy analysis and reporting workflow using optical genome mappingClifford B. Poster hallIsotachophoresis (ITP) for high-throughput isolation of UHMW gDNA suitable for optical genome mapping (OGM)Yadav M. More details on Bionano’s presence at the ESHG conference can be found here, and virtual posters will be shown here; more details on Bionano’s presence at the ACC conference can be found here. About Bionano Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s 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. The Company also offers an industry-leading, platform-agnostic genome analysis software solution and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services. For more information, visit www.bionano.com, www.bionanolaboratories.com or www.purigenbio.com. Unless specifically noted otherwise, Bionano’s OGM products are for research use only and not for use in diagnostic procedures. Forward-Looking Statements of Bionano This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “ability,” “believe,” “may,” “potential,” “will,” 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, OGM’s utility for genetic disorder, rare disease, and cancer research applications; OGM’s ability and utility for resolving HAE cases; the ability and utility of OGM to detect SVs relevant to rare disease; the ability of OGM to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods; OGM’s ability to enhance detection of pathogenic variants and to advance genetic disease research; the utility of the latest innovations in OGM workflows, including the Stratys system and VIA software; the utility of OGM for research in the areas reported in the presentations given and the posters made available at the ESHG Annual Conference 2024 and AAC 2024; the growth and adoption of OGM for use in genetic disorder, rare disease, and cancer research applications; the ability and utility of our OGM solutions to drive market adoption of OGM; and any other statements not of historical fact. 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: global and macroeconomic events, such as the impact of the global pandemics, bank failures, interest rate changes, supply disruptions, and the ongoing conflicts in the Ukraine and Russia and between Israel and Hamas, and related sanctions, on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; the failure of OGM’s utility for genetic disorder, rare disease, and cancer research applications; the failure of OGM to resolve HAE cases; the failure of OGM to detect SVs relevant to rare disease; the failure of OGM to unveil more cytogenomic insights into multiple myeloma samples than traditional cytogenetic methods; the failure of OGM to enhance detection of pathogenic variants and to advance genetic disease research; the failure of our latest innovations in OGM workflows, including the Stratys system and VIA software; the failure of OGM for research in the areas reported in the presentations given and the posters made available at the ESHG Annual Conference 2024 and AAC 2024; the growth and adoption of OGM for use in genetic disorder, rare disease, and cancer research applications; the ability and utility of our OGM solutions to drive market adoption of OGM; the ability of our OGM solutions to offer the anticipated benefits for and contributions to the areas reported in the presentations given and posters made available at the ESHG Annual Conference 2024 and AAC 2024; future study results contradicting the results reported in the presentations given and posters made available at the ESHG Annual Conference 2024 and AAC 2024; 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 our technologies; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts and to continue as a "going concern”; 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, 2023 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 management’s 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. CONTACTS Company Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionano.com Investor Relations:David HolmesGilmartin Group+1 (858) 888-7625IR@bionano.com