HmtVar

A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information. The main web resource to explore human mitochondrial variability data and their pathological correlation. HmtVar is a manually-curated database offering variability and pathogenicity information about mtDNA variants. Data are gathered from HmtVar's twin database HmtDB, and further integrated with pathogenicity predictions as well as additional information from several online resources focused on mtDNA, such as MITOMAP, 1000 Genomes Project, MutPred, SNPs&GO and many others.

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A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information
PMID: 31821723

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:43.211567

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• A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information PubMed citations: 1.

  1 articles citing: A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information

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  Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214

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cell biology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:43.211567

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natural language processing

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pathology

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workflows

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genotype and phenotype

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cell biology natural language processing pathology workflows genotype and phenotype