human-genetics

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

Pedigree generation software incorporating PRIMUS, ERSA, and PADRE.

PRP: Pathogenic Risk Prediction for Rare Nonsynonymous Single Nucleotide Variants

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

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

A Python tool for retrieving, analyzing, and visualizing clinically annotated genetic variants from the Ensembl REST API.

Personal website of Sangita Ganesh | Biology + Software.

Chromosome X Evidence Atlas — ranked, evidence-scored catalog of chrX genetic associations across human traits

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

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

End-to-end germline NGS analysis pipeline using FastQC, BWA-MEM, SAMtools, BCFtools and Ensembl VEP on GRCh38.

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

A Systematic Analysis of Gene-Gene Interaction Networks Underlying Human Polygenic Phenotypes

Empirico is a biotechnology company that powers therapeutic discovery with human genetics and small interfering RNA (siRNA) medicines. Combining internal capabilities in human genetics and siRNA chemistry with partner expertise, the company identifies naturally occurring genetic variations associated with health benefits and develops precision…