rare disease

Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.

British genomics interpretation software vendor Congenica will help researchers analyze WGS and WES in search of a genetic cause for sudden unexpected death in epilepsy.

The UK-based maker of clinical genomics interpretation software is moving into the US and China after carefully researching the differences from European markets.

Canada's Gene42, maker of PhenoTips software, recently forged partnerships with CHOP, Genome Canada, and SeqOne in the fight against rare genetic diseases.

The report advises that although sequencing the genomes of infants can be appropriate in some specific cases, we shouldn’t implement large-scale programs to test healthy babies.

The WGS workflow for diagnosing pediatric genetic diseases uses off-the-shelf products and fits into standard diagnostic laboratory procedures.

PyxisMap, unveiled at the recent ISMB conference, might soon be able to remove the human element from finding causal variants for rare diseases.

PerkinElmer will offer providers and patients screening for ASAH1 mutations through its PerkinElmer Genomics laboratory unit.

Just From Dad

Buzzfeed News reports on the case of a young girl who inherited most of her genes from just her father.

Genome and RNA sequencing led to recurrent EGFR and BRAF rearrangements in cryptogenic congenital mesoblastic nephroma and infantile fibrosarcoma soft tumors.

Pages

In PLOS this week: grey wolf population genomics, mutations associated with lung adenocarcinoma survival, and more.

An opinion piece at Bloomberg discusses China's stance on genomic research.

Genetic ancestry testing can affect a person's sense of identity, the New York Times Magazine writes.

Nebula Genomics is launching its genome sequencing service for free for people who provide certain information about themselves, the Boston Globe reports.