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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The Chan Zuckerberg Initiative is investing in Cold Spring Harbor Laboratory's BioRxiv.

A study appearing in PLOS One finds that shortened consent forms don't affect clinical trial participants' understanding of the study.

The National Security Agency monitored signal intelligence for signs of "nefarious" genetic engineering projects, Gizmodo reports.

In Nature this week: barley genome sequenced, method for genotyping and phasing short tandem repeats, and more.