Illumina Makes Massive Variant Donation to ClinVar

Oct 21, 2016

|

VANCOUVER, British Columbia (GenomeWeb) – Illumina announced yesterday that it has submitted more than 95,000 human genetic variants to the National Center for Biotechnology Information (NCBI)'s open-access ClinVar database.

The variants were identified in individuals undergoing TruGenome predisposition testing or TruGenome undiagnosed disease testing at the company's CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory, Ryan Taft, senior director of scientific research, told GenomeWeb at the American Society of Human Genetics annual meeting.

To read the full story....

...and receive Daily News bulletins.

Already have a GenomeWeb or 360Dx account?
Login Now.

Breaking News

The Scan

Concerns About Bias in Policies

Researchers representing scientists and students of Chinese descent voice their concerns about recent US policies and rhetoric.

Reprogrammable DNA

Wired reports that researchers have shown they could reprogram a DNA-based computer.

Lack of Diversity

Researchers say increased diversity in genomic studies will benefit all, PBS NewsHour reports.

This Week in Science

In Science this week: whole-genome sequencing of single sperm cells, and more.

Featured White Papers

Whole Genome Sequencing of Microbial Communities for Scaling Microbiome and Metagenomic Studies

Controlling Ribonuclease (RNase) with High Irradiance UV LED Light Engines

Modular DNA Assembly of PIK3CA Using Acoustic Liquid Transfer in Nanoliter Volumes

Effective Miniaturization of Illumina Nextera XT Library Prep for Multiplexed Whole Genome Sequencing and Microbiome Applications

Mar

26

Featured Webinar

Advancing Agricultural Genomics with Low-Cost NGS Genotyping

This webinar will address the current status and future directions for massively high-throughput genomics for plant and animal breeding and research.

Mar

27

Featured Webinar

How One NGS Core Lab Reduced Sequencing Costs with a Novel Library Normalization Kit

Sequencing workflows require library quantification and normalization to ensure data quality and reduce cost.

Mar

28

Featured Webinar

The Human Gene Mutation Database: Empowering a Generation of Geneticists for Precision Medicine

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.

Apr

09

Featured Webinar

Combining AI with Community-Driven Insights: Advanced Diagnosis of Inherited Cardiac Diseases

This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies.

Menu