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Using genome sequence data from almost 65,000 individuals, researchers identified 39.2 million SNPs that can be applied to improved genotyping imputation.
The project has recruited nearly half of the 1,000 families it plans to analyze and has completed the exome analysis for about 160.
Researchers found distinct genetic differences in the two forms of CHD and discovered three new rare CHD disorders in children.
The updated repository includes 265 drugs, 1,074 cell lines, as well as associated whole-exome sequencing and gene expression data among other datasets.
Melanoma patients with just one copy of the MC1R gene variant linked to red hair harbor 42 percent more mutations in their tumors than expected.
The Human Cancer Models Initiative aims to create about 1,000 cancer cell lines that scientists can use to study tumor progression, drug resistance, and more.
The researchers will use Sapientia to analyze samples from 1,000 fetuses as part of efforts to develop an exome-based assay for non-invasive prenatal testing.
The supercomputer was used to identify genomic variants in some 300 deeply sequenced human samples for use in a planned bead-array-based genotyping chip.
The study expands on the known genetic subtypes, shows that they are correlated with clinical outcome, and paves the way for better subtype-driven patient management.
Sanger Institute researchers analyzed the genomes and mutational signatures of 560 breast cancer tumors, identifying new ways to classify the disease.
Nature News reports that genomics is being applied to trace and try to prevent additional COVID-19 waves.
Rady's Children Hospital and San Diego County are teaming up to test pediatric patients and their families for COVID-19 to gauge the spread of the virus locally, according to the San Diego Union-Tribune.
Wildlife managers aim to boost the genetic diversity of Mexican gray wolves by placing captive-born foster pups into packs with similarly aged wild pups, the Mercury News reports.
In Science this week: Genetic Probability tool identifies likely diagnoses in 45 percent of inflammatory arthritis cases, and more.