American Society of Human Genetics

QIAGEN and Element Biosciences partner to offer complete next-generation sequencing workflows for the AVITI System

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Thursday, November 2, 2023
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Venlo, the Netherlands, and San Diego, California, Nov. 02, 2023 (GLOBE NEWSWIRE) -- QIAGEN (NYSE: QGEN; Frankfurt Prime Standard: QIA) and Element Biosciences, Inc. today announced a strategic partnership to offer comprehensive next-generation sequencing (NGS) workflows for the Element AVITI™ System, an innovative sequencing platform.

Key Points: 
  • Venlo, the Netherlands, and San Diego, California, Nov. 02, 2023 (GLOBE NEWSWIRE) -- QIAGEN (NYSE: QGEN; Frankfurt Prime Standard: QIA) and Element Biosciences, Inc. today announced a strategic partnership to offer comprehensive next-generation sequencing (NGS) workflows for the Element AVITI™ System, an innovative sequencing platform.
  • Element’s AVITI System is a versatile benchtop sequencer offering a combination of performance, cost, and flexibility for a wide range of NGS applications.
  • For customers using the AVITI System, QIAGEN provides Sample to Insight NGS workflows with validated QIAseq panels and integrated bioinformatic solutions, including CLC LightSpeed and QCI Interpret software.
  • “The collaboration between QIAGEN and Element Biosciences delivers unprecedented insights across various genomic applications to our customers worldwide.

GeneDx Reports Third Quarter 2023 Financial Results and Business Highlights

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Monday, October 30, 2023
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ET

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  • ET
    STAMFORD, Conn., Oct. 30, 2023 (GLOBE NEWSWIRE) -- GeneDx Holdings Corp. (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today reported its financial results for the third quarter of 2023.
  • Test Volume: Total tests resulted in the third quarter of 2023 were nearly 58,000, compared to nearly 45,000 for the third quarter of 2022.
  • Gross Margin: Adjusted gross margin from continuing operations expanded to 48% in the third quarter of 2023, up sequentially from 37% in the second quarter of 2023.
  • Total Company results reported today for the third quarter of 2023 include GeneDx’s continuing operations and the financial impacts of exited Legacy Sema4 business activities.

Ambry Genetics Unveils at ASHG New Insights on the Use of Multiomic Testing in 43,000 Patient Study

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Saturday, November 4, 2023
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Key findings from this study indicate that RNA-dependent classifications were instrumental in enhancing the accuracy of genetic testing.

Key Points: 
  • Key findings from this study indicate that RNA-dependent classifications were instrumental in enhancing the accuracy of genetic testing.
  • Reducing Inconclusive Rates: The number of variants of uncertain significance reduced considerably, providing clarity and enhancing the overall reliability of multi-gene panel testing.
  • Patients and the healthcare teams who care for them deserve nothing less,” said CEO of Ambry Genetics, Tom Schoenherr.
  • It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease.

Glycomine Presents at ASHG 2023 Data from Ongoing Natural History Study with Insight into Genetic Mutations and Biomarkers for PMM2-CDG

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Thursday, November 2, 2023
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Glycomine, Inc. , a biotechnology company focused on developing new therapies for orphan diseases, announced the presentation of summary findings from its ongoing natural history study at the American Society for Human Genetics (ASHG) 2023 Annual Meeting taking place in Washington, DC.

Key Points: 
  • Glycomine, Inc. , a biotechnology company focused on developing new therapies for orphan diseases, announced the presentation of summary findings from its ongoing natural history study at the American Society for Human Genetics (ASHG) 2023 Annual Meeting taking place in Washington, DC.
  • The findings included genotype characterization, combined with the progression of key biomarkers, over two to four years.
  • The effort has resulted in the largest single dataset in patients with PMM2-CDG from a prospective natural history study to date.
  • PB1696) is “Ongoing Natural History Study in Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG): Clinical and Basic Investigations.”

DNAnexus to Showcase the Power of the Precision Health Data Cloud at ASHG 2023 Annual Meeting

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Tuesday, October 31, 2023
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DNAnexus, Inc. , the premier precision health data cloud provider, today announced the speaker lineup for its presentations at the American Society of Human Genetics (ASHG) Annual Meeting 2023 , which is being held in Washington, D.C., this week.

Key Points: 
  • DNAnexus, Inc. , the premier precision health data cloud provider, today announced the speaker lineup for its presentations at the American Society of Human Genetics (ASHG) Annual Meeting 2023 , which is being held in Washington, D.C., this week.
  • The company will be showcasing its Precision Health Data Cloud and large-scale analysis tools in booth #1802.
  • The DNAnexus Precision Health Data Cloud allows researchers to store, access, and explore large sets of proteomic, transcriptomic, genomic, phenotypic, imaging, and other structured data.
  • “DNAnexus has built the only secure and scalable Precision Health Data Cloud capable of managing, analyzing, and collaborating on large-scale multimodal biomedical datasets,” said Thomas Laur, CEO at DNAnexus.

Quantum-Si Presents its Vision to Transform Genomics and Proteomics Research at ASHG 2023

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Tuesday, October 31, 2023
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"Platinum, stands as a groundbreaking advancement in next-generation protein sequencing™ moving the field beyond the limitations posed by mass spectrometry and immunoassays.

Key Points: 
  • "Platinum, stands as a groundbreaking advancement in next-generation protein sequencing™ moving the field beyond the limitations posed by mass spectrometry and immunoassays.
  • This robust tool is a solution, enabling precise, single-molecule resolution," remarked Quantum-Si Chief Executive Officer Jeff Hawkins.
  • Additionally, on Thursday, November 2, at 4:30 p.m., Quantum-Si scientists will present: Unleashing Next-generation Protein Sequencing™ with Platinum™: How it will Transform Genomics and Proteomics Research .
  • Its elegant design and simple workflow enable broad-scale access to proteomic data, for every scientist, everywhere, making it a groundbreaking platform for the future of proteomics research.

Ultima Genomics to Present at ASHG and Provide Updated Reference Data Set

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Tuesday, October 31, 2023
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Watchmaker Genomics will demonstrate gene fusion detection via cost-effective whole transcriptome sequencing using the optimized Watchmaker RNA Library prep kit.

Key Points: 
  • Watchmaker Genomics will demonstrate gene fusion detection via cost-effective whole transcriptome sequencing using the optimized Watchmaker RNA Library prep kit.
  • In conjunction with the conference, Ultima will be releasing a new data set demonstrating significant improvements to the technology made through early access.
  • In particular, the data demonstrates significant improvements in indel accuracy made through a variety of advancements across chemistry and bioinformatics.
  • Industry Education Session: Empowering Genomics at Scale Thursday, Nov. 2 | Room 140AB | Talks 3:30 - 4:30 p.m.

Genie Life Sciences Announces a New Software Integration with the Opentrons OT-2 and Flex Lab Robots

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Monday, October 30, 2023
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Genie Life Sciences, a provider of cloud-connected laboratory orchestration solutions, announced today a new integration with the Opentrons OT-2 and Flex Lab Robots on its software platform, Genie LabOS.

Key Points: 
  • Genie Life Sciences, a provider of cloud-connected laboratory orchestration solutions, announced today a new integration with the Opentrons OT-2 and Flex Lab Robots on its software platform, Genie LabOS.
  • This feature will allow Genie customers to natively control the Opentrons OT-2 and Flex Lab Robots through Genie LabOS, software that provides a single solution to design, manage, and orchestrate your entire lab automation workflow.
  • Designed for all experience levels in the automation space, LabOS makes it easy to control all instrumentation in your lab.
  • “We are excited for the release of the Opentrons products in the Genie LabOS platform.

Allelica launches the Allelica Precision Server, an on-premises solution for clinical bioinformatics analyses

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Friday, November 3, 2023
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NEW YORK, Nov. 3, 2023 /PRNewswire/ -- Allelica, the leading provider of software tools for clinical bioinformatics, announced the launch of its latest innovation, the Allelica Precision Server (APS). APS revolutionizes the way medical laboratories approach clinical bioinformatics analyses, streamlining polygenic risk score (PRS), pharmacogenomics (PGx), and carrier screening analyses securely and efficiently within their own environments.

Key Points: 
  • Allelica announces the release of the Allelica Precision Server for CLIA-compliant, on-premises analysis and clinical reporting of polygenic risk score, pharmacogenomics and carrier screening
    NEW YORK, Nov. 3, 2023 /PRNewswire/ -- Allelica, the leading provider of software tools for clinical bioinformatics, announced the launch of its latest innovation, the Allelica Precision Server (APS).
  • APS revolutionizes the way medical laboratories approach clinical bioinformatics analyses, streamlining polygenic risk score (PRS), pharmacogenomics (PGx), and carrier screening analyses securely and efficiently within their own environments.
  • APS is designed to support the development of clinical tests that meet the Clinical Laboratory Improvement Amendments (CLIA) standards, ensuring the accuracy and reliability of results.
  • For clinical laboratories developing these tests, it's crucial to perform validation procedures using the same software tools which will be used in production.

MyOme Presents New Data: Improved 10-year Risk Prediction of Coronary Artery Disease through Polygenic Risk Scores Integrated with Clinical Factors Showcased at the American Society of Human Genetics Annual Meeting

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Thursday, November 2, 2023
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MENLO PARK, Calif., Nov. 2, 2023 /PRNewswire/ -- MyOme, Inc., a pioneering clinical whole genome platform analysis company specializing in polygenic risk scores, will present data during the 2023 American Society of Human Genetics (ASHG) Annual Meeting taking place from November 1-5, 2023 in Washington, DC. The focus will be on the integrated polygenic risk score, caIRS, which combines genetics with traditional clinical risk factors to improve the identification of high-risk individuals for coronary artery disease (CAD) across diverse populations.

Key Points: 
  • The focus will be on the integrated polygenic risk score, caIRS, which combines genetics with traditional clinical risk factors to improve the identification of high-risk individuals for coronary artery disease (CAD) across diverse populations.
  • Traditionally, most CAD risk assessment tools and tests have been validated on a relatively narrow population.
  • Polygenic risk scores (PRS), which aggregate millions of genetic variants of small effect size into a single score, offer the potential to improve the accuracy of clinical risk assessment tools.
  • MyOme has developed and validated an integrated risk score that combines a cross-ancestry PRS with the PCE (caIRS).