whole-genome-sequencing topic

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

nf-core

A handy variant calling pipeline generator for whole-genome sequencing (WGS) and whole exom sequencing data (WES) analysis. 一个简易且全面的 WGS/WES 分析流程生成器.

ShujiaHuang

Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data

nanoporetech

An R package for performing STAAR procedure in whole-genome sequencing studies

xihaoli

BACTpipe: An assembly and annotation pipeline for bacterial genomics

ctmrbio

vcfdist: Accurately benchmarking phased variant calls

TimD1

Whole Exome/Whole Genome Sequencing alignment pipeline

IARCbioinfo

JARVIS: a comprehensive deep learning framework to prioritise non-coding variants in whole genomes

astrazeneca-cgr-publications

vSNP -- validate SNPs

USDA-VS

Detect novel (and reference) STR expansions from short-read data

quinlan-lab