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rare disease

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.

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

The initiative will promote the clinical implementation of precision medicine with an initial focus on rare diseases.

With all of its 600 nurses trained in genomics competency, the research hospital at NIH wants patient genetic pedigrees available directly in the EMR.

In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.

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In PLOS this week: Mycobacterium abscessus linked to gastric conditions, placental gene expression changes associated with preterm birth, and more.

The Guardian reports that UK universities are looking into ways to reduce labs' reliance on single-use plastics.

People with certain gene variants tend to not like vegetables, particularly bitter ones, CNN reports.

MIT's Technology Review reports on a company's genetic test that gauges an embryo's susceptibility to certain diseases.