exome sequencing
Understanding What Makes a Successful Crowdfunding Campaign
Understanding What Makes a Successful Crowdfunding Campaign
Jim Daley | May 1, 2018
Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.
Exome Sequencing Helps Crack Rare Disease Diagnosis
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Mutations Linked to Secondary Cancers
Mutations Linked to Secondary Cancers
Jef Akst | Apr 4, 2017
Childhood cancer survivors with mutations in certain cancer-risk genes have a higher risk of developing additional neoplasms later in life, according to research presented at the American Association for Cancer Research annual meeting.
Should Healthy People Have Their Exomes Sequenced?
Should Healthy People Have Their Exomes Sequenced?
Ruth Williams | Mar 24, 2017
With its announced launch of a whole-exome sequencing service for apparently healthy individuals, Ambry Genetics is the latest company to enter this growing market. But whether these services are useful for most people remains up for debate.  
The Genetics of Human Height
The Genetics of Human Height
Jef Akst | Feb 2, 2017
Researchers can now explain more than a quarter of the variability in human stature.
Exome Study Reveals Novel Disease-Linked Alleles
Exome Study Reveals Novel Disease-Linked Alleles
Anna Azvolinsky | Dec 22, 2016
By combining whole-exome sequencing data with longitudinal electronic health record information for 50,000 individuals, researchers have identified novel disease associations.
Q&A: Sequencing Newborns
Q&A: Sequencing Newborns
Tracy Vence | Oct 21, 2016
Members of the BabySeq Project discuss trial enrollment, preliminary findings.
Exome Dataset Expands to Whole Genome
Exome Dataset Expands to Whole Genome
Tracy Vence | Oct 19, 2016
Members of the Exome Aggregation Consortium launch the Genome Aggregation Database.
Largest Human Genetic Variation Repository Yet
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
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.