HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.
As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.
In cases lacking explanatory protein-coding changes, researchers saw an uptick in de novo mutations in conserved, non-coding regulatory elements.
In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.
Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.
The Mayo Medical Laboratories laboratory is offering mate-pair sequencing for cancer and inherited disease indications, with plans to expand the service.
Two studies described de novo gene mutations involved in autism spectrum disorder and other neurodevelopmental conditions, while weeding out unrelated changes.
GeneDx said it will contribute patient data and analytical tools to the UK's Deciphering Developmental Disorders study.
A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.
HUG's genetic medicine arm will use Saphetor's software and variant knowledgebase in clinical projects focused on developmental and neurological disorders.
Parabon NanoLabs is partnering with law enforcement to use genetic genealogy approaches to solve cold cases, Buzzfeed News reports.
A Columbia University-led team used emergency contact information from medical records to create family trees and estimate disease heritability.
NPR says a new report recommends that former research chimpanzees should be moved to retirement sanctuaries unless that move would shorten their lives.
In Science this week: ancient Southeast Asian genomes provide insight on human migration, and more.