variant classification
Oxford Nanopore Technologies, Saphetor Partner on Data Analysis, Variant Interpretation
The companies will develop an end-to-end analysis workflow, focusing initially on long-read whole-genome sequencing data for rare and undiagnosed diseases.
Google DeepMind Machine Learning Method Predicts Pathogenic Effects of Missense Variants
After developing a machine-learning method for predicting variant effects, researchers applied it to all possible missense mutations in human protein-coding sequences.
The five centers, funded as part of NIH's Somatic Mosaicism across Human Tissues Network, will analyze over 2,200 samples to study somatic variants in humans.
Nigerian Population Structure, Genetic Variation Uncovered in Whole-Genome Sequencing Study
By sequencing hundreds of individuals from 47 ethnolinguistic groups, researchers explored population relationships and genetic diversity in the country.
A new NIH-wide project to reevaluate the diversity of genomes within the same individual will spend at least $7 million to fund tool development.