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Largest Human Genetic Variation Repository Yet
Anna Azvolinsky | Aug 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.
Additional #IceBucketChallenge Payoffs
Jef Akst | Jul 28, 2016
Researchers identify a new ALS-associated gene thanks to funds generated by the social media challenge that went viral in summer 2014.
The Genetic Components of Rare Diseases
Kelly Rae Chi | Jul 1, 2016
Techniques for determining which genes or genetic variants are truly detrimental
Human Exomes Galore
Karen Zusi | Nov 16, 2015
A new database includes complete sequences of protein-coding DNA from 60,706 individuals.
Illumina, Investors Launch Consumer Genetics Firm
Tracy Vence | Aug 19, 2015
With $100 million in initial funding, Helix aims to make personal genomics accessible.
Exomes in the Clinic
Tracy Vence | Oct 21, 2014
Two teams report molecular diagnosis rates of 25 percent sequencing separate sets of patients with undiagnosed, suspected genetic conditions.
Rina Shaikh-Lesko | Jun 20, 2014
Report provides primer on using clinical genome and exome sequencing technologies.
Week in Review: May 19–23
Tracy Vence | 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
Making Sense of the Tumor Exome
Kerry Grens | May 18, 2014
An algorithm can pick out biologically and clinically meaningful variants from whole-exome sequences of tumors.
Genetic Brain Disorder Explained
Rina Shaikh-Lesko | Apr 25, 2014
Researchers uncover a mutation responsible for a rare neurological condition.