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image: Exome Study Reveals Novel Disease-Linked Alleles

Exome Study Reveals Novel Disease-Linked Alleles

By | December 22, 2016

By combining whole-exome sequencing data with longitudinal electronic health record information for 50,000 individuals, researchers have identified novel disease associations.

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image: Q&A: Sequencing Newborns

Q&A: Sequencing Newborns

By | October 21, 2016

Members of the BabySeq Project discuss trial enrollment, preliminary findings.

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image: Exome Dataset Expands to Whole Genome

Exome Dataset Expands to Whole Genome

By | October 19, 2016

Members of the Exome Aggregation Consortium launch the Genome Aggregation Database.

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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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