The Tapestry study will initially return genetic results for familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome to patients.
The investigators used gene expression, chromatin interaction, and functional annotations to prioritize 191 genes as targets of potentially causal variants.
Researchers discovered a duplication affecting the RYR2 gene in two families, which may indicate that it is a founder mutation in the Amish population.
By identifying core venom toxin genes with Indian cobra genomic and transcriptomic data, researchers hope to set the stage for future antivenom production based on synthetic venom.
With new instruments and workflows able to quantify thousands of proteins in as little as five minutes, 2019 was the year proteomics cracked its throughput problem.
Run by the Simons Foundation Autism Research Initiative, SPARK has already grown to more than 220,000 participants from 75,000 families living in the US.
The score's developers also suggest that current guidelines for stroke prevention may not be sufficient for individuals at higher genomic risk for the condition.
Two recent CRISPR-Cas9 viability screens in cancer cell lines were concordant across multiple metrics despite significant differences in experimental protocols.
Using the free service, called Fingenious, researchers will be able to access genomic data generated by the country's FinnGen project, which aims to genotype 500,000 Finns by 2023.
Researchers at BostonGene and Weill Cornell Medicine hope their approach may provide a more complete and precise characterization of diffuse large B-cell lymphomas.
Currently available under a soft launch, the tool can provide information about the prevalence of cancer risk mutations based on patients' demographics.
Individuals with high genetic susceptibility to heart disease but good sleep habits appeared less likely to develop disease than those with poor sleep patterns.
With metagenomic sequencing on birch pitch, investigators sequenced a 5,700-year-old individual from Sweden, along with sequences from her meal and her oral microbes.
The company said that it plans to use the funds to develop and commercialize its Proteograph proteomics platform for research and clinical applications.
An initial analysis suggests the novel coronavirus from Wuhan that is sickening people might come from snakes, a team of virologists writes at the Conversation.
