mutation detection
Medulloblastoma Initiation, Progression Contributors Uncovered in Single-Cell Study
With single-nucleus RNA sequencing, single-cell ATAC-seq, spatial transcriptomics, and computational modeling, researchers linked tumor initiation to large copy number changes.
De Novo Mutation Rate in Humans Higher Than Assumed, Multigenerational Genomics Study Suggests
Researchers combined short-read and long-read sequence data for 28 individuals from four generations of a family to characterize de novo mutation rates and patterns.
Potential Treatment Target Genes Found in Genomic Study of Bipolar Disorder
Researchers flagged genes containing rare, loss-of-function mutations in bipolar disorder using genome sequences from hundreds of thousands of individuals.
Gastric Tissue Sequencing Study Reveals Recurrent Alterations, Precancerous Changes
By sequencing microdissected samples from individuals with or without gastric cancer, researchers characterized mutation rates and processes along the gastrointestinal tract.
Cancer Predisposition Syndrome Study Finds 'Second-Hit' Somatic Mutations in Cancer-Free Tissues
Researchers identified somatic mutations in NF1 in normal, cancer-free tissues in individuals with a cancer predisposition condition marked by germline mutations in the gene.