Model files for Sentieon variant callers

A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data

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Frequently used commands in bioinformatics

Application of pan-genome for population

tools for reading, writing, merging, and remapping SNPs

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Application for making ENCODE Blacklists

Research pipeline for exploring clinically relevant genomic variants

mitochondrial variant analysis tools

A collection of simple JavaScript programs for generating, formatting, and analyzing short DNA and protein sequences. The Sequence Manipulation Suite is commonly used by molecular biologists, for t…

Tortoise is the CPU workflow of the HAT https://github.com/TNTurnerLab/HAT tools.

Website for checking SpliceAI and Pangolin scores:

MrMosaic (Genomic Mosaic Structural Variant Caller)

A curated list of awesome pipeline toolkits inspired by Awesome Sysadmin

A curated and summarized list of bioinformatics bench-marking papers and resources.

Bioinformatics data analysis and visualization toolkit

A curated list of awesome Bioinformatics libraries and software.

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fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

Toolkit for processing sequences in FASTA/Q formats

Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.

Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes

📚 Relevant papers for CNV and SV approaches

MOsaic CHromosomal Alterations (MoChA) caller

Structural variation caller using third generation sequencing