exome sequencing

Combining data from the genetic testing techniques can guide patient care, scientists say.

Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

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.

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.  

Researchers can now explain more than a quarter of the variability in human stature.

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

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

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

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. 

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

Techniques for determining which genes or genetic variants are truly detrimental

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

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

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

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

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

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

Researchers uncover a mutation responsible for a rare neurological condition.