Julia Karow tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb. Follow her on Twitter at @Julia_Karow.
Since 2015, the Regeneron Genetics Center has sequenced 250,000 exomes from phenotyped individuals, identifying "human knockouts" and other large-effect mutations.
The company recently released the MGISEQ-2000, MGISEQ-200, and MGIFLP sequencing platforms, as well as the MGIUS-R3 robotic ultrasound system.
As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.
Denmark-based Arcedi would like to commercialize its technology through a major diagnostic company.
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.
According to survey results presented at ASHG, most genetics experts support somatic and germline gene editing, though few favor trait enhancement.
In a wide-ranging discussion, the two leaders touched upon vaccine development, infant mortality, US education, research funding, machine learning, and precision medicine.
MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
Several commercial NIPT providers in the US said they are planning to participate in the new program.
The company says Panorama is the only NIPT that can tell whether twins are identical or fraternal, which can impact the clinical management of a pregnancy.
The US Food and Drug Administration has new guidelines that enable some gene and cell therapies to undergo expedited review, according to the New York Times.
Using gene drives to control invasive species might be too risky, an initial advocate of the approach says.
In Science this week: intellectual property experts argue patent battles such as the one over CRISPR are wasteful, and more.
Researchers have grown tumors in 3D cell cultures to better understand cancer, the Economist reports.