human-genetics
There are 12 repositories under human-genetics topic.
kishwarshafin/helen
H.E.L.E.N. (Homopolymer Encoded Long-read Error-corrector for Nanopore)
shishenyxx/DeepMosaic
DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.
jordanlab/tagore
The script presents a simple way to visualize features on human chromosome ideograms
damianosmel/GenOtoScope
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
acostauribe/genetic-data-QC
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
rivas-lab/multisnpnet-Cox
Multiresponse time-to-event Cox proportional hazards model - CPU
gatoravi/denovogear-legacy
Statistical model to detect de-novo mutations using sequencing data from trios and pairs.
tanlabcode/arvin
A package that ranks the SNPs using genomic, epigenomic and network based features.
epsalazarf/AdmixrPlus
A modification to Sikora's admixr to make it more accesible
epsalazarf/aDNAxRefPanel
A pipeline to merge ancient DNA sequencing data with modern genotyping data
pfenninglab/Zoonomia_Cell-TACIT_fine-mapping
Machine learning models of conserved regulatory elements and human genetics of neuropsychiatric traits
limbus-medtec/transcript-info
Summary of RefSeq transcript alignment issues with human reference genomes (hg19, hg38)