hereditary disease | GenomeWeb

hereditary disease

The company has installed Illumina's HiSeq X sequencing platform and expects to sequence 20,000 genomes by the end of next year.

The company has also expanded its current Veracity NIPT to sex chromosomal aneuplodies and twin pregnancies, and plans to offer microdeletion testing next year.

The company launched an updated version of its Face2Gene software suite earlier this month at the American Society of Human Genetics annual meeting.

Clinicians and genetic counselors are coming up with triage strategies for cancer cases in which medically actionable germline mutations are suspected.

Last year, Radboud University Medical Centre's genetics lab conducted about 6,000 diagnostic exome tests and ran 2,000 nex-gen sequencing-based BRCA1/2 hereditary cancer assays.

The project has recruited nearly half of the 1,000 families it plans to analyze and has completed the exome analysis for about 160.

ACMG said in a position statement that NIPS can replace conventional screening for Patau, Edwards, and Down syndrome in most women.

The WGS service will be provided by Genome.One, a new health information company owned by and based at the Garvan Institute of Medical Research in Sydney.

Last month, the foundation, in partnership with the Washington State Department of Health, released seven educational videos about prenatal testing.

Revisions to the reimbursement catalog went into effect July 1, but stakeholders are quarreling about a pre-authorization requirement in court.

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In PNAS this week: variation patterns in wheat lines, regulatory variation in Capsella grandiflora, and more.

A Rockefeller University researcher is using edited ants to explore complex biological systems, the New York Times writes.

There's a heritable aspect to how much time people spend online, the Los Angeles Times reports.

Stat News reports that Joseph Gulfo is another contender for FDA commissioner.