exome sequencing

Hong Kong-based Rainbow Genomics will provide exome sequencing while UCLA will interpret the data and deliver a clinical report.

In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.

Data from almost 19,500 individuals did not show clear ties between a heterozygous mutation in the HBB hemoglobin beta gene and ischemic stroke risk.

At the AACR annual meeting, researchers highlighted genomics- and proteomics-informed research aimed at establishing more effective, targeted immunotherapies.

With exomes for more than 500 individuals with neural tube defects, researchers are narrowing in on new variants that may raise the risk of the serious congenital conditions.

Jean-Laurent Casanova aims to identify single-gene mutations that compromise the immunity of normally healthy individuals and lead to severe infectious disease.

The automated tool AMELIE is designed to prioritize candidate genes found in individuals with Mendelian disease, aiding in exome analyses and diagnoses.

Researchers used mutations found among individuals with autism to tease out affected pathways, such as ones linked to synaptic function, morphology, and plasticity.

At a time of rapid growth in the consumer genetics space, PerkinElmer and NorthShore are developing digital apps to ease access to genetic disease risk information through Helix.

After three years of work, the EXaCT-1 exome cancer test has become part of clinical cancer care at NewYork-Presbyterian, but developers have higher ambitions.

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Researchers have treated an X-linked genetic disease affecting three babies in utero, Stat News reports.

The Associated Press reports that the US Centers for Disease Control and Prevention is beefing up sequencing as a tool to investigate foodborne illnesses.

Researchers have sequenced samples from ancient toilets to study past eating habits and health, NPR reports.

In Nature this week: ash dieback disease fungal genome, and more.