human-genetics - 技术专题

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.

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

Personal website of Sangita Ganesh | Biology + Software.

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

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

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

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