The project has identified carrier variants in 109 infants so far — a total of 232 variants in 166 genes — according to a presentation at ASHG today.

MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.

Called GA4GH Connect, it calls on the alliance's 500-plus members to develop new data sharing standards for use in major international genomic data initiatives.

A research duo estimates in PLOS One the number of papers that have used misidentified cell lines.

UK's National Institute for Health and Care Excellence approves GlaxoSmithKline's SCID gene therapy despite cost.

Science reports that Brazilian researchers are petitioning for the reversal of budget cuts.

In PLOS this week: gene flow patterns in common ash, guidelines for using morpholinos in zebrafish, and more.

This white paper describes a benchmarking study of 30 whole-exome sequencing cases in which Diploid's Moon software outperformed another variant interpretation algorithm in ranking causal variants.