The NBSeq project will involve exome sequencing on some 1,600 newborn blood spot samples.
Emory's Madhuri Hegde presented two cases that illustrate how researchers can initially be led astray in their initial interpretation of exome data.
The updated Mantis provides researchers a tool for the automated interpretation of cancer-related somatic variants, including variants of unknown significance.
In its first years, the study has found a definitive genetic explanation for the symptoms of about a quarter of patients, and uncovered a plausible cause for a full 60 percent.
The technology involves targeted sequencing of rare extracellular microRNAs ordinarily represented by low numbers of reads and therefore hard to detect.
In Nature this week: Icelandic genome sequences, approach to increase CRISPR efficiency, and more.
Testing showing "genetic incompatibilities" have led thousands of couples in Saudi Arabia to call off their weddings, the BBC reports.
Decode Genetics' ability to tell Icelanders, even ones the company hasn't sequenced, about their disease risk brings up ethical questions.
Genetic analysis of Britain's King Richard III and modern descendants of his relatives indicate breaks in the male line.
This live online seminar will highlight recent trends in applying next-generation sequencing in the clinical setting, with a particular focus on oncology and rare disease.