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genetic disorders

At the Biology of Genomes meeting, BCM-HGSC head Richard Gibbs presented findings from pediatric and adult cases tested by clinical exome sequencing.

Agilent is buying Cartagenia to offer a complete suite of products for NGS and array testing that covers data generation through interpretation.

The consortium currently has phenotype data for more than 1,100 mouse knockout strains and hopes to have as many as 5,000 by next year

In its first years, the study has found a definitive genetic explanation for the symptoms of about a quarter of patients, and uncovered a plausible cause for a full 60 percent.

The solution leverages the open source Hadoop framework and HBase database infrastructure to analyze hundreds of thousands of genomic datasets.

Investigators have identified a form of compound inheritance for congenital scoliosis that involves null mutations and hypomorphic alleles of a particular gene.

NHGRI will provide the Centers for Common Disease Genomics with $60 million and the Centers for Mendelian Genomics with $10 million.

Bioinformatics firm Congenica today announced it has received £1 million ($1.6 million) from Cambridge Innovation Capital to scale up its Sapientia platform.

This story has been updated to clarify that the Parabase test's correct diagnosis rate when phenotype was considered was specifically 32 out of 34 samples and to add additional comments by the company.


Researchers uncovered the HIV virus within a tissue sample collected in 1966, the Atlantic reports.

Nature News reports there are a handful of clinical trials underway to evaluate vaginal microbiome seeding of newborns born via caesarian section.

The Washington Post writes that humans may have contributed to the extinction of cave bears some 20,000 years ago.

In PLOS this week: gene variant may protect against trypanosomiasis, GLIS3 role in type 2 diabetes, and more.