American Society of Human Genetics

Sema4|GeneDx Announces Results from Phase 1 of SeqFirst Study, Demonstrating Broad Utility of Rapid Whole Genome Sequencing for Critically Ill Newborns

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Thursday, October 27, 2022
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STAMFORD, Conn., Oct. 27, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, today announced updated research showing the clear benefits of rapid whole genome sequencing (rWGS) to diagnose critically ill newborns in the neonatal intensive care unit (NICU). The findings come from the recently completed first phase of the SeqFirst study, for which Sema4|GeneDx performed the sequencing, and was conducted in partnership with Seattle Children’s Hospital and the University of Washington. Tara Wenger, an attending physician at Seattle Children’s Hospital, will give a platform presentation at the American Society of Human Genetics (ASHG) Annual Meeting on October 28, 2022, to share research highlights.

Key Points: 
  • The findings come from the recently completed first phase of the SeqFirst study, for which Sema4|GeneDx performed the sequencing, and was conducted in partnership with Seattle Childrens Hospital and the University of Washington.
  • Abnormal rWGS results were found in 63% of the infants that were sequenced, and explanatory rWGS results resulted in a change in health management in 88% of cases overall.
  • Among the infants who received abnormal results, one-quarter were not suspected of having a genetic syndrome, emphasizing the value of broad-based testing.
  • For more information, please visit sema4.com and connect with us on LinkedIn , Twitter , Facebook , and Instagram .

Dante Genomics creates separate drug discovery and development company Genomic Biopharma Inc.

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Wednesday, October 26, 2022
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NEW YORK, Oct. 26, 2022 (GLOBE NEWSWIRE) -- Dante Genomics , a global leader in genomics and precision medicine, today announced the creation of Genomic Biopharma Inc. , a separate drug discovery and development company to distinguish the separate business streams of each entity.

Key Points: 
  • NEW YORK, Oct. 26, 2022 (GLOBE NEWSWIRE) -- Dante Genomics , a global leader in genomics and precision medicine, today announced the creation of Genomic Biopharma Inc. , a separate drug discovery and development company to distinguish the separate business streams of each entity.
  • Genomic Biopharma Inc. was created as a fully integrated drug discovery and development company, with a pipeline of drug programs for treatments and therapies focused on infectious and rare diseases.
  • Dante Genomics provided initial funding and resources to Genomic Biopharma Inc. to kick off the new entitys endeavors and programs.
  • Genomic Biopharma Inc. is a drug discovery and development company building a pipeline of drug programs focused on bringing to market treatments and therapies for infectious and rare diseases.

Sema4|GeneDx collaborates on new research demonstrating genome and exome sequencing deliver more diagnostic certainty than multi-gene panels

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Wednesday, October 26, 2022
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STAMFORD, Conn., Oct. 26, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, has collaborated on research debunking a commonly held belief that exome and genome sequencing deliver more inconclusive results than multi-gene panels.

Key Points: 
  • STAMFORD, Conn., Oct. 26, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, has collaborated on research debunking a commonly held belief that exome and genome sequencing deliver more inconclusive results than multi-gene panels.
  • The study of more than 1.5 million tests shows genomic sequencing generates more diagnostic certainty than panel-based testing.
  • It demonstrated that both genome and exome testing have lower VUS rates compared to traditional gene panels, with trio-based genomic testing having the fewest reported VUS rates.
  • Genome and exome sequencing have improved diagnostic yields and contribute greatly to ending the diagnostic odyssey, which is a goal of affected families, healthcare providers and payers.

MyOme Presents New Data at ASHG 2022 on an Ethnically-Inclusive Breast Cancer Risk Assessment

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Thursday, October 27, 2022
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MENLO PARK, Calif., Oct. 27, 2022 /PRNewswire/ -- MyOme, a clinical whole genome platform analysis company, today announced new data on its cross-ancestry integrated risk score (caIRS) for breast cancer risk assessment that will be presented at the 2022 American Society of Human Genetics (ASHG) Annual Meeting in Los Angeles. In a study on more than 270,000 women across multiple ancestries, data showed that there was a significant increase in breast cancer risk assessment performance when a cross-ancestry polygenic risk score was integrated into the standard of care risk prediction tool.

Key Points: 
  • MENLO PARK, Calif., Oct. 27, 2022 /PRNewswire/ -- MyOme , a clinical whole genome platform analysis company, today announced new data on its cross-ancestry integrated risk score (caIRS) for breast cancer risk assessment that will be presented at the 2022 American Society of Human Genetics (ASHG) Annual Meeting in Los Angeles.
  • In a study on more than 270,000 women across multiple ancestries, data showed that there was a significant increase in breast cancer risk assessment performance when a cross-ancestry polygenic risk score was integrated into the standard of care risk prediction tool.
  • Hispanic women showed the largest improvement in remaining lifetime breast cancer risk; 44% increase in odds ratio per unit standard deviation (increase from 1.31 to 1.88)
    "Commonly used breast cancer risk assessment tools based on clinical and family history are not well calibrated for women of certain ancestries.
  • Breast cancer is the most common cancer among women and a leading cause of cancer mortality.

Dr. David Wong of UCLA to Present on Saliva Liquid Biopsy Research Using Spectrum Solutions' Saliva Collection Device for the Detection of Cancer Biomarkers at ASHG 2022

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Tuesday, October 25, 2022
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of the UCLA School of Dentistry will present at the American Society of Human Genetics (ASHG) Annual Meeting 2022 on Friday, Oct. 28 at 1:00 p.m. in the CoLab Theater.

Key Points: 
  • of the UCLA School of Dentistry will present at the American Society of Human Genetics (ASHG) Annual Meeting 2022 on Friday, Oct. 28 at 1:00 p.m. in the CoLab Theater.
  • This presentation will highlight the new era of saliva as a non-invasive biospecimen for CLIA-validated liquid biopsies in non-small cell lung cancer.
  • Previous research by UCLA researchers demonstrated detection of actionable EGFR mutations in non-small cell lung cancer (NSCLC) patients using saliva delivering a 96% and 100% sensitivity/concordance with serum.
  • Additional benefits of Spectrums saliva collection system included improving assay reproducibility and decreasing sample variability among study participants.

DNAnexus to Showcase Platform Scalability, Versatility, and Security at ASHG 2022 Annual Meeting

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Tuesday, October 25, 2022
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The company will also be showcasing its GxP-compliant platform and new Nextflow pipeline language support capabilities in booth #2103.

Key Points: 
  • The company will also be showcasing its GxP-compliant platform and new Nextflow pipeline language support capabilities in booth #2103.
  • The rapidly evolving genomic and multi-omic ecosystem has created an enormous need for a scalable and compliant analysis platform that drives critical insights from massive datasets, said Stephen Nuckols, Chief Commercial Officer at DNAnexus.
  • The platform provides a comprehensive cloud environment that was designed to meet the most rigorous standards for quality, security, privacy, and safety.
  • For more information on DNAnexus, please visit www.dnanexus.com or follow the company @DNAnexus .

Complete Genomics, part of MGI, Announces Next-Generation Sequencing Platforms at ASHG Annual Meeting

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Wednesday, October 26, 2022
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MGI isa global life science tool provider offeringlab automation and NGS sequencing platforms around the world.

Key Points: 
  • MGI isa global life science tool provider offeringlab automation and NGS sequencing platforms around the world.
  • Complete Genomicsoffers complete NGS instrumentation and related products, including sample extraction, library prep, automation system, sequencing platforms, and bioinformatics.
  • This technology is available on all sequencing platforms,which eliminates index hopping and clonal errors during the sequencing step of NGS workflow.
  • At ASHG, Complete Genomics showcases DNBSEQ-E25*, DNBSEQ-G400*, DNBSEQ-T7*, and DNBSEQ-T10x4* at the MGI booth (#1803).

RAJANT HEALTH INC. UNVEILS GROUNDBREAKING OMICS ANALYSIS SERVICE - TROVOMICS

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Tuesday, October 18, 2022
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Malvern, Pennsylvania (USA), Oct. 18, 2022 (GLOBE NEWSWIRE) -- Rajant Health Incorporated (RHI), developer of cutting-edge technology to provide health insights on-demand, announces Trovomics , a modern and fresh approach to break down barriers to omics analysis.

Key Points: 
  • Malvern, Pennsylvania (USA), Oct. 18, 2022 (GLOBE NEWSWIRE) -- Rajant Health Incorporated (RHI), developer of cutting-edge technology to provide health insights on-demand, announces Trovomics , a modern and fresh approach to break down barriers to omics analysis.
  • Trovomics service takes uploaded omics data and generates interactive and customizable publication-ready visualizations that people can understand.
  • Booth 2406
    Trovomics is Rajant Health Incorporateds (RHI) omics analysis service that dramatically accelerates research involving omics data.
  • Rajant Health Incorporated (RHI), based in Malvern, Pennsylvania, is the developer of cutting-edge technology to provide on-demand health insights.

Twist Bioscience Launches Human Sample ID Kit to Track Whole Blood Samples Through Lab Testing Workflow

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Tuesday, October 18, 2022
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Twist Bioscience Corporation (NASDAQ: TWST), a company enabling customers to succeed through its offering of high-quality synthetic DNA using its silicon platform, today announced the launch of the Twist Human Sample ID Kit to provide researchers with a solution to track samples throughout the lab workflow.

Key Points: 
  • Twist Bioscience Corporation (NASDAQ: TWST), a company enabling customers to succeed through its offering of high-quality synthetic DNA using its silicon platform, today announced the launch of the Twist Human Sample ID Kit to provide researchers with a solution to track samples throughout the lab workflow.
  • The Twist Human Sample ID Kit can be easily integrated into Twist NGS workflows and enables tracking from whole blood or purified genomic DNA to ensure sample identification throughout the lab workflow, offering robust coverage and high confidence in the detection of genetic variations to distinguish between samples.
  • Sample ID allows researchers to identify the sample at the beginning of the NGS workflow to eliminate misidentification or labeling two different samples as identical.
  • The Twist Human Sample ID Kit prepares sequence-ready genotyping libraries in a streamlined workflow.

Homology Medicines to Participate at Upcoming Conferences

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Thursday, October 6, 2022
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BEDFORD, Mass., Oct. 06, 2022 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a clinical-stage genetic medicines company, announced today participation at the following conferences.

Key Points: 
  • BEDFORD, Mass., Oct. 06, 2022 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a clinical-stage genetic medicines company, announced today participation at the following conferences.
  • Additional programs focus on metachromatic leukodystrophy (MLD), paroxysmal nocturnal hemoglobinuria (PNH) and other diseases.
  • Homology has a management team with a successful track record of discovering, developing and commercializing therapeutics with a focus on rare diseases.
  • Homology believes its initial clinical data and compelling preclinical data, scientific and product development expertise and broad intellectual property position the Company as a leader in genetic medicines.