ClinVar

Unlocking the Human Genome: Innovative Machine Learning Tool Predicts Functional Consequences of Genetic Variants

Retrieved on: 
Thursday, December 14, 2023
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NEW YORK, Dec. 14, 2023 /PRNewswire-PRWeb/ -- In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome.

Key Points: 
  • NEW YORK, Dec. 14, 2023 /PRNewswire-PRWeb/ -- In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome.
  • LoGoFunc uses machine learning trained on a database of known pathogenic gain-of-function and loss-of-function mutations identified in the literature.
  • "Beyond personalized medicine, LoGoFunc has implications for drug discovery, genetic counseling, and accelerating genetic research.
  • "We believe that LoGoFunc will be a powerful tool for deciphering the functional consequences of genetic variations.

Myriad Genetics Issues 2022 Environmental, Social and Governance Report

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Tuesday, September 19, 2023
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“At Myriad, we understand the important role we play in advancing health equity and social justice,” said Paul Diaz, president and chief executive officer, Myriad Genetics.

Key Points: 
  • “At Myriad, we understand the important role we play in advancing health equity and social justice,” said Paul Diaz, president and chief executive officer, Myriad Genetics.
  • At the end of 2022, women made up 62% of the Myriad workforce and 45% of leadership roles.
  • Since 2019, Myriad has recycled approximately 102 tons of plastic from its Salt Lake City laboratories, including 31.4 tons of plastic during 2022.
  • For more information about Myriad’s ESG efforts, read the 2022 report

Invitae Releases Data Use Transparency Report, Demonstrating the Impact of Patient Data on Genetic Research

Retrieved on: 
Wednesday, December 7, 2022
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SAN FRANCISCO, Dec. 7, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced the release of its Data Use Transparency and Impact Report, which details how the company has used de-identified patient data to advance precision medicine. While many companies collect patient data, they do not disclose how this data is being used. Invitae is leading the industry by publishing this first-of-its-kind report on how it used de-identified patient data for secondary data research in 2021. 

Key Points: 
  • While many companies collect patient data, they do not disclose how this data is being used.
  • Invitae is leading the industry by publishing this first-of-its-kind report on how it used de-identified patient data for secondary data research in 2021.
  • Unlike most companies, Invitae offers patients a choice on whether or not to allow access to their de-identified data for research.
  • Further showcasing the importance of sharing patient data, Invitae recently reached a milestone of more than 1 million ClinVar submissions .

Genomenon Provides Genomic Data on 450 Diseases to Advance Early Identification of Rare Disease in Newborns

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Tuesday, November 15, 2022
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ANN ARBOR, Mich., Nov. 15, 2022 /PRNewswire-PRWeb/ -- Genomenon, Inc., an AI-driven genomics company, announced more details on their plan to curate the genes associated with over 450 rare diseases for the purpose of newborn screening via next generation DNA sequencing. The program is the first initiative in Genomenon's mission to curate the entire human genome and is an essential part of the BeginNGS™ newborn sequencing project led by Rady Children's Institute for Genomic Medicine (RCIGM).

Key Points: 
  • When identified early, many rare diseases can be treated preemptively to head-off disastrous consequences of later stage diagnosis.
  • Genomenon's goal is to expand the knowledgebase to cover all 7,000 rare diseases and make the data available to labs and testing centers wishing to expand their rare disease testing.
  • "We've been working with Genomenon since the very early creation of the Mastermind Genomic Search Engine," said A/Prof.
  • Genomenon is an AI-driven genomics company focused on making genomic information actionable for patients with rare genetic diseases and cancer.

Genomenon Integrates ClinVar Data into Mastermind to Support Clinical Decision-Making

Retrieved on: 
Wednesday, September 7, 2022
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ANN ARBOR, Mich., Sept. 7, 2022 /PRNewswire-PRWeb/ -- Genomenon, Inc., an AI-driven genomics company, has integrated all the variants and pathogenicity interpretations from the ClinVar database into the Mastermind® Genomic Search Engine. This integration combines patient variants found by genetic testing labs and submitted to ClinVar with the scientific evidence for these variants found across the entirety of medical literature, all in a single Mastermind search.

Key Points: 
  • ClinVar is a public archive of data submitted by genetic testing labs on the relationships between medically important genetic variants and their clinical characteristics found in patients.
  • Mastermind delivers two significant advancements in ClinVar usability: First, Mastermind provides all the scientific evidence for a variant required to support diagnostic decisionsevidence that is often missing in ClinVar.
  • Second, Mastermind improves the accessibility of ClinVar data by allowing users to easily search using any variant nomenclature, which can lead to finding more evidence.
  • "The integration of ClinVar data into Mastermind makes genomic analysis for clinical decision support faster, easier, and more effective," said Mike Klein, CEO of Genomenon.

Genomenon Extends Insight into Genomic Evidence with Mastermind Search Companion

Retrieved on: 
Tuesday, November 30, 2021
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Mastermind Search Companion seamlessly integrates Mastermind's insight into the scientific literature with the online resources variant analysts already use.

Key Points: 
  • Mastermind Search Companion seamlessly integrates Mastermind's insight into the scientific literature with the online resources variant analysts already use.
  • This allows analysts to quickly navigate their standard search sites and expand them with Mastermind search results.
  • Mastermind Search Companion delivers the ability to get more insight within any existing process and set of databases.
  • "Genomenon's Search Companion extends Mastermind's support into additional variant databases for everyone tasked with interpreting genomic data," said Mike Klein, Genomenon CEO.

Twist Bioscience Launches Exome 2.0 for Genomics Research

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Wednesday, October 20, 2021
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Twist continues to expand our portfolio of high-quality, best-in-class life science tools, said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience.

Key Points: 
  • Twist continues to expand our portfolio of high-quality, best-in-class life science tools, said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience.
  • With the launch of Exome 2.0, we now offer a complete portfolio of flexible, comprehensive exome options to support genomics researchers looking to identify the underpinnings of disease.
  • The Twist Exome 2.0 is an exome panel designed with thoughtfully curated content that includes comprehensive coverage of genes responsible for rare diseases, inherited disorders, and germline cancers in humans.
  • Twist Bioscience is a leading and rapidly growing synthetic biology and genomics company that has developed a disruptive DNA synthesis platform to industrialize the engineering of biology.