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rare disease

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.

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.

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A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.