Category: research


27 November / / research
The spectrum of somatic single-nucleotide variants in cancer genomes often reflects the signatures of multiple distinct mutational processes, which can provide clinically actionable insights into cancer etiology. Existing software tools for identifying and evaluating these mutational signatures do not scale to analyze large datasets containing thousands of individuals or millions of variants. We introduce Helmsman, a program designed to perform mutation signature analysis on arbitrarily large sequencing datasets.
27 November / / research
Introduction The Mutation Rate Browser is a preconfigured UCSC Genome Browser track to explore and visualize patterns of fine-scale variability in human germline mutation rates alongside other genomic data. Download the data The raw data used to create these tracks can be downloaded at Tracks are only available for assembly GRCh37 (hg19) of the human reference genome, but can be converted to coordinates in other assemblies using the UCSC liftOver utility.
Introduction Whole-genome sequencing data must go through extensive quality control measures to ensure that the variants identified in an individual’s genome are true biological differences and not the result of errors that can occur throughout the many stages of sample preparation and sequencing. Many such errors can be avoided by collecting, storing, transferring, and preparing the biological samples according to established best practices. Human error is inevitable, however, and sometimes a few DNA samples will get degraded or oxidized or sloshed into another well of the plate, etc.