H.E.L.E.N. (Homopolymer Encoded Long-read Error-corrector for Nanopore)

DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.

The script presents a simple way to visualize features on human chromosome ideograms

Automated ACMG/AMP classification for human variants associated with congenital hearing loss

This is a pipeline for quality control and cleanup for genetic data. It can be tailored to fit whole genome, exome sequencing or SNP array

Multiresponse time-to-event Cox proportional hazards model - CPU

A package that ranks the SNPs using genomic, epigenomic and network based features.

A pipeline to merge ancient DNA sequencing data with modern genotyping data

A modification to Sikora's admixr to make it more accesible

Machine learning models of conserved regulatory elements and human genetics of neuropsychiatric traits

Summary of RefSeq transcript alignment issues with human reference genomes (hg19, hg38)

Network-Mediated Relaxation of Selective Constraints on Genes Associated with Human Polygenic Phenotypes

IBD-based pedigree generation software, built on top of and maximizing utility from the tools PRIMUS and ERSA