Stars
A DSL for data-driven computational pipelines
This is a genetic analysis pipeline written in nextflow, to be eventually used in rare disease diagnosis.
Tandem repeat genotyping and visualization from PacBio HiFi data
A suite of tools for detecting expansions of short tandem repeats
DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.
RTG Tools: Utilities for accurate VCF comparison and manipulation
Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
Welcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees in the UBC MSc Genetic Counselling Training Program, as the…
Identifying, understanding, and correcting technical biases on the sex chromosomes in next-generation sequencing data
web-based analysis tool for rare disease genomics
Inferring sex chromosome and autosomal ploidy in NGS data