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
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Updated
Apr 29, 2024 - Shell
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
DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.
Summary of RefSeq transcript alignment issues with human reference genomes (hg19, hg38)
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
Machine learning models of conserved regulatory elements and human genetics of neuropsychiatric traits
The script presents a simple way to visualize features on human chromosome ideograms
Multiresponse time-to-event Cox proportional hazards model - CPU
H.E.L.E.N. (Homopolymer Encoded Long-read Error-corrector for Nanopore)
A pipeline to merge ancient DNA sequencing data with modern genotyping data
A modification to Sikora's admixr to make it more accesible
A package that ranks the SNPs using genomic, epigenomic and network based features.
Statistical model to detect de-novo mutations using sequencing data from trios and pairs.
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