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genetic disorders

The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.

The 1000 Genomes Project Consortium has shared their results with the scientific community in hopes of gaining insight into disease genomics.

The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.

The Mayo team aims to launch MP-seq for hematological malignancies and constitutional diseases in the next year and for solid tumors one year later.

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.

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ScienceInsider reports that rude and unprofessional paper reviewers are common and can have harmful effects.

The US Senate has confirmed Stephen Hahn as the next commissioner of the Food and Drug Administration, according to the New York Times.

CNBC reports Apple is partnering with Color Genomics to offer its employees free DNA screening for disease.

In Science this week: researchers use CRISPR tool to find gut microbiome molecules involved in immunity, and more.