targeted sequencing
Deciphering Developmental Disorders Study Provides Molecular Diagnosis to 41 Percent of Patients
Members of the DDD study team diagnosed more than 5,500 children with rare diseases from the UK and Ireland using exome sequencing and microarrays.
New Lung Cancer Evolution, Treatment Response Patterns Emerge From TRACERx Study
TRACERx researchers reported on non-small cell lung cancer features linked to disease progression, recurrence, treatment response, and more in seven new papers.
Gastric Cancer Risk Variants, Pathogen Interactions Found in Retrospective Study
Sequencing on gastric cancer cases and controls helped flag nine susceptibility genes, including genes that interact with Helicobacter pylori infection to bump up risk.
Breast Cancer Study Leads to New Susceptibility Gene, Potential Treatment Strategies
Researchers found risk variants in the DNA damage checkpoint gene ATRIP in a Polish founder population and linked the gene to breast cancer risk and HRD in other populations.
Thermo Fisher Scientific's IonTorrent Genexus platform can provide cancer panel results in about a day, but data on clinical impact of the fast turnaround has not yet been produced.