exome sequencing
Additional #IceBucketChallenge Payoffs
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
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
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
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
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.
Clinical ’Omes
Clinical ’Omes
Rina Shaikh-Lesko | Jun 20, 2014
Report provides primer on using clinical genome and exome sequencing technologies.
Week in Review: May 19–23
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
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
Genetic Brain Disorder Explained
Rina Shaikh-Lesko | Apr 25, 2014
Researchers uncover a mutation responsible for a rare neurological condition.