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hereditary disease

FDNA's Face2Gene suite analyzes phenotypic data, including facial features, from rare disease patients.

The company, which has offices in Italy and New York, outsources the analysis to partner laboratories and offers genetic counseling as an option.

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.

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NPR reports that researchers have developed chimeric embryos as part of work toward growing human organs in animals for organ transplants.

According to the Washington Post, the Biden Administration is set to make changes to federal restrictions on fetal tissue research.

In Science this week: approach to isolated trace DNA from archaic humans from sediments, and more.

Texas Monthly looks into the DNA Zoo being collected by Baylor College of Medicine researchers.