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The researchers found likely deleterious de novo tandem repeat mutations that were more common among individuals with autism spectrum disorder.
Some are comparing iGenomics, a former high school intern's creation, to the fictional "medical tricorder" of "Star Trek" fame.
In Genome Biology this week: relapse-linked mutations in T cell acute lymphoblastic leukemia, single-cell atlas of human tissue transcriptomes, and more.
Weill Cornell Medicine, New York-Presbyterian Hospital, and the New York Genome Center will join Illumina to sequence the genomes of thousands of patients.
The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.
In Genome Research this week: assay for profiling chromatin accessibility, analysis of genetic variants among malaria-transmitting mosquitoes, and more.
The updated elPrep 5 sequencing processing platform is said to run 8 to 16 times faster than GATK while producing similar results, thanks to parallel computing and new algorithms.
At its annual GPU conference this week, Nvidia said it is teaming with Oxford Nanopore, GSK, AstraZeneca, and PetaGene to advance bioinformatics and drug discovery.
The funding will help the San Francisco-based firm apply low-depth NGS as it builds diagnostic tests to aid therapy selection in more diverse populations.
Researchers found complex "rigma," "pyrgo," and "tyfona" structural variant classes by applying their new algorithm to thousands of cancer genomes.
Politico notes that the Biden Administration has not yet nominated a permanent Food and Drug Administration commissioner.
Anthony Fauci also informed the World Health Organization executive board that the US would be joining the COVAX initiative, according to CNBC.
A new preprint suggests some SARS-CoV-2 variants could affect the effectiveness of current vaccines, the Associated Press reports.
In Nature this week: Australian lungfish provides details on the movement of vertebrate life from water to land, and more.