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Introduction to Machine Learning Systems

Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature.org/).

Public repository for VariantValidator project

Code for design of diagnostic PCR primers, and metabarcoding markers.

Example client programs for Saphetor's VarSome annotation API

A tool to extract LOH blocks from VCF, BAM and FASTA data

REST Interface for VariantValidator. Includes docker container