human-genetics

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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

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