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.

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

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

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

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

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