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List of works by Reece K Hart

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Functional characterization of the Bcl-2 gene family in the zebrafish.

scientific article published on 4 August 2006

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

scientific article

Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13 ⬇️

scientific article published on November 1, 1991

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

scientific article published on 21 January 2016

SeqRepo: A system for managing local collections of biological sequences

scientific article published on 03 December 2020

Somatic cancer variant curation and harmonization through consensus minimum variant level data

scientific article

Systematic and fully automated identification of protein sequence patterns.

scientific article published in January 2000

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

scientific article published on 10 November 2021

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

scientific article published on 05 September 2018

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