The performance of WES for genetically heterogeneous disorders improves significantly when testing is performed on the proband and two or more family members.
Both tests analyze tumor and normal samples by next-generation sequencing to help doctors make therapy decisions for cancer patients.
Independent analyses on dozens of tumor-normal Sézary syndrome pairs points to frequent alterations in signaling, cell cycle, and epigenetic pathways.
The site, introduced at the American Society of Human Genetics meeting last week, supports genotyping data generated by 23andMe, AncestryDNA, and FamilyTreeDNA.
The session included perspectives from three clinical researchers from the US and Europe and a representative of the US Food and Drug Administration.
The group will eventually look to license the technology for its VirCapSeq-VERT assay to a partner for commercialization.
Columbia runs the 467-gene test on the Illumina HiSeq 2500 out of its CLIA-certified, CAP-accredited Laboratory of Personalized Genomic Medicine.
Researchers found a handful of individuals whose post-transfusion blood samples contained a new virus resembling hepaciviruses and pegiviruses.
RNA sequencing on samples from three New England seals revealed a new picornavirus that appears to share a common ancestor with human hepatitis A virus.
Under the Genomic Translation for ALS Clinical Care project, the partners will perform next-generation sequencing and clinical phenotyping on 1,500 ALS patients.
NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.
According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.
A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.
In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.