DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.
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Updated
Jun 4, 2024 - Python
DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.
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
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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