snvs

Strelka2 germline and somatic small variant caller

Personal Cancer Genome Reporter (PCGR)

Microassembly based somatic variant caller for NGS data

A method for variant graph genotyping based on exact alignment of k-mers

The Platinum Genomes Truthset

Generic germline variant annotation pipeline

Detect and phase minor SNVs from long-read sequencing data

A collection of Python modules equivalent to R ReQTL Toolkit aims to identify the association between expressed SNVs with their gene expression using RNA-sequencing data.

Filters for Next Generation Sequencing

Scripts used in MDV project

This is the github repository for the Eichler lab Amazon Web Services (AWS) pipelines

Codes for exome sequencing class being taught by Tychele N. Turner, Ph.D.

A somatic mutation signature simulator

Codes for genome sequencing class being taught by Tychele N. Turner, Ph.D.

parser para planillas excel, sobre cargado de potenciales casos covid

Determine read depth and variant frequency thresholds to distinguish NGS sequencing errors from true SNPs. Simulates effect of changing per-site read depth and variant frequency on accuracy of genetic diversity measures (pi, alterante allele frequency, shannon diversity).

SNV calling workflow