ASHG

Allelica to provide multi-ancestry polygenic risk score to Baylor College of Medicine for clinical implementation

Retrieved on: 
Tuesday, March 19, 2024
WGS, Health informatics, Informatics, Coronary artery disease, Associate, Patient, PRS, ASHG, Human genetics, Laboratory, Whole genome sequencing, Baylor College of Medicine, Society, Traction, BCM, Physician, Health

NEW YORK, March 19, 2024 /PRNewswire/ -- Allelica, market leader in clinical solutions for polygenic risk score analysis and reporting, has announced a strategic collaboration with leading health sciences institution, Baylor College of Medicine (BCM), to integrate clinical, multi-ancestry polygenic risk score (PRS) testing into BCM's extensive patient services portfolio.

Key Points: 
  • NEW YORK, March 19, 2024 /PRNewswire/ -- Allelica, market leader in clinical solutions for polygenic risk score analysis and reporting, has announced a strategic collaboration with leading health sciences institution, Baylor College of Medicine (BCM), to integrate clinical, multi-ancestry polygenic risk score (PRS) testing into BCM's extensive patient services portfolio.
  • This marks a significant milestone in making world class genomic medicine accessible, equitable, and impactful for patients across diverse communities.
  • Allelica's PRS solution enables more precise identification of patients' genetic risk for coronary artery disease and other diseases and traits.
  • Baylor is one of several institutions working with Allelica to provide clinical PRS testing to patients.

Complete Genomics and seqWell Announce Codevelopment Partnership at AGBT

Retrieved on: 
Wednesday, February 7, 2024
Partnership, Genomics, Product management, SAN, Marketing, Complete Genomics, Completeness, Human genetics, DNA, Mass meeting, Society, NGS, Genomic library, Synthetic biology, ASHG

SAN JOSE, Calif. and BEVERLY, Mass., Feb. 7, 2024 /PRNewswire/ -- Complete Genomics, a life sciences company specializing in end-to-end DNA sequencing solutions, and seqWell, a global provider of genomic library preparation workflow solutions, today announced a partnership aimed at expanding the range of library preparation product offerings available to Complete Genomics customers. The companies will work together to ensure seqWell-developed products are compatible with the entire Complete Genomics next-generation sequencing (NGS) and automation portfolios.

Key Points: 
  • The companies will work together to ensure seqWell-developed products are compatible with the entire Complete Genomics next-generation sequencing (NGS) and automation portfolios.
  • "Our partnership with seqWell enables us to offer a broader range of tools to support a broader range of customer needs."
  • Leveraging the power of the Complete Genomics DNBSEQ-G400RS * and seqWell purePlex ™ DNA Library Prep Kit , this partnership will allow customers to the ability to run cost-effective and scalable workflows pairing seqWell library prep kits with Complete Genomics' portfolio of DNBSEQ technologies.
  • The latest outcome of this partnership enables customers to pair seqWell's ExpressPlex ™ library prep kits with Complete Genomics' portfolio of DNBSEQ technologies, including the DNBSEQ-G-99 RS* and DNBSEQ-T7 RS* sequencers.

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

Retrieved on: 
Thursday, November 2, 2023
ASHG, QGEN, CLC, Genomics, DC, NYSE, Element, Corporation, Speed, Society, Senior, NGS, American Society of Human Genetics, Medicine, Partnership, Business, WGS, Workflow, Human genetics, QCI, QIAGEN, Management

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

Retrieved on: 
Monday, October 30, 2023
Legacy, American Society of Human Genetics, ASHG, VUS, Rare, Genetics, GAAP, Society, Genetics in Medicine, Sequence, Perceptive Software, Date, WGS, Human genetics, Total, Patient, VWAP, Exome, Medical device, Video game, Airline, Pharmaceutical industry, Cryptocurrency, Medicine, GeneDx

ET

Key Points: 
  • 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

Retrieved on: 
Saturday, November 4, 2023
Science, Biotechnology, Research, Oncology, General Health, Health, Genetics, Clinical Trials, ASHG, Patient, Cancer, VUS, Genetic testing, Ambiguity, Health equity, RNA, JAMA, Society, Genome, Database, Disease, Classification, American Society of Human Genetics, Medicine, Biology, Human genetics, JAMA Oncology, DNA, Vaccine, Pharmaceutical industry

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

Retrieved on: 
Thursday, November 2, 2023
Health, Genetics, Clinical Trials, Research, Science, Pharmaceutical, Biotechnology, Principal, ASHG, DC, Biomarker, Genotype, CDG, Society, Birth, American Society of Human Genetics, Caregiver, Disease, Annual general meeting, PMM2-CDG, National Board of Health and Welfare (Sweden), Patient, Pharmaceutical industry, Nursing, Glycosylation

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

Retrieved on: 
Tuesday, October 31, 2023
Research, Technology, Genetics, Software, Other Health, Biotechnology, Health, Data Management, Science, Other Science, Cloud, Privacy, ASHG, American Society of Human Genetics, Data divide, Society, Human genetics, Medical device, DNAnexus

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

Retrieved on: 
Tuesday, October 31, 2023
Research, Technology, Semiconductor, Genetics, Clinical Trials, Health Technology, Biotechnology, Pharmaceutical, Health, Science, ASHG, Genomics, Proteomics, Journal of Proteome Research, Booth, Dicarboxylic acid, Phenotype, Protein, Society, Mass spectrometry, American Society of Human Genetics, Drug discovery, Protein sequencing, Human genetics, Platinum, Munich Information Center for Protein Sequences, Microscope

"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

Retrieved on: 
Tuesday, October 31, 2023
Health, Genetics, Health Technology, Research, Science, Biotechnology, ASHG, Whole genome sequencing, Genomics, Stanford University, Booth, Genetic disorder, Alternative splicing, Centre for Industry Education Collaboration, UG, Society, Baylor College of Medicine, Fusion, ATAC, American Society of Human Genetics, Human genetics, Baylor, Scale, Ultima, Chemistry, Gene expression, Baylor University, Antibiotics, Music, Fine chemical, Communications satellite

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.

BioSkryb Genomics to Present New Single-Cell Multiomic Data at ASHG 2023

Retrieved on: 
Monday, October 30, 2023
Research, Technology, Other Technology, Health Technology, Other Health, General Health, Health, Science, Oncology, Other Science, ASHG, Acute leukemia, Genomics, Mosaic, PIK3CA, Breast cancer, Annual general meeting, Single-cell analysis, B-ALL, Medical imaging, Vaccine, D.C

We look forward to highlighting these recent accomplishments amongst our industry colleagues.”

Key Points: 
  • We look forward to highlighting these recent accomplishments amongst our industry colleagues.”
    BioSkryb’s presentation schedule at ASHG 2023 is as follows:
    Description: Pairing Sony SH800 sorting with ResolveOME™ multiomic profiling unlocked the ability to discern somatic mosaicism and tumor evolution.
  • Heterogeneous PIK3CA mutations, copy number alterations, and transcriptional cell states were revealed in single breast cancer cells.
  • Single nucleus sorting in primary neurons, murine brain, and cell lines enabled nuclear transcriptional profiling and quantitation of genomic copy number variation.
  • It also identified a potential genotype-phenotype association between two deletions in chromosome 6 and a more stem-like state.