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image: Largest Human Genetic Variation Repository Yet

Largest Human Genetic Variation Repository Yet

By | August 17, 2016

An open-access catalog of tens of thousands of human exome sequences highlights the power of a very large genomic dataset in pinpointing genes linked to rare diseases. 

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image: Additional #IceBucketChallenge Payoffs

Additional #IceBucketChallenge Payoffs

By | July 28, 2016

Researchers identify a new ALS-associated gene thanks to funds generated by the social media challenge that went viral in summer 2014.

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image: The Genetic Components of Rare Diseases

The Genetic Components of Rare Diseases

By | July 1, 2016

Techniques for determining which genes or genetic variants are truly detrimental

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image: Human Exomes Galore

Human Exomes Galore

By | November 16, 2015

A new database includes complete sequences of protein-coding DNA from 60,706 individuals.

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image: Illumina, Investors Launch Consumer Genetics Firm

Illumina, Investors Launch Consumer Genetics Firm

By | August 19, 2015

With $100 million in initial funding, Helix aims to make personal genomics accessible.

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image: Exomes in the Clinic

Exomes in the Clinic

By | October 21, 2014

Two teams report molecular diagnosis rates of 25 percent sequencing separate sets of patients with undiagnosed, suspected genetic conditions.

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image: Clinical ’Omes

Clinical ’Omes

By | June 20, 2014

Report provides primer on using clinical genome and exome sequencing technologies.

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image: Week in Review: May 19–23

Week in Review: May 19–23

By | May 23, 2014

Sperm-sex–sensing sows; blocking a pain receptor extends lifespan in mice; stop codons can code for amino acids; exploring the tumor exome

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image: Making Sense of the Tumor Exome

Making Sense of the Tumor Exome

By | May 18, 2014

An algorithm can pick out biologically and clinically meaningful variants from whole-exome sequences of tumors.

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image: Genetic Brain Disorder Explained

Genetic Brain Disorder Explained

By | April 25, 2014

Researchers uncover a mutation responsible for a rare neurological condition.

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