Variant Interpretation Pipeline

A fast multi-threaded k-mer counter

Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders

Code for the UTR P/LP variants manuscript

Modeling of human 5′ UTRs enables the design of new sequences for target levels of translation and 5′ UTR variant prediction.

uorf4u is a bioinformatics tool for conserved upstream ORF annotation.

Ultrafast GPU-enabled QTL mapper

Extract 3'UTR, 5'UTR, CDS, Promoter, Genes, Introns, Exons from GTF files

Pangolin is a deep-learning method for predicting splice site strengths.

Deep learning framework for SV calling and genotyping

生物信息学软件，资源和工具库的精选列表

A modern compressor for genomic files (FASTQ, SAM/BAM/CRAM, VCF, FASTA, GFF/GTF/GVF, 23andMe...), up to 5x better than gzip and faster too

A high performance and compression ratio compressor for genomic data, powered by GTXLab of Genetalks.

Jasmine: SV Merging Across Samples

C++ library and cmdline tools for parsing and manipulating VCF files with python and zig bindings

genetic variant expressions, annotation, and filtering for great good.

GENOA cis-eQTL mapping study

The next version of bwa-mem