Article

Integration of genomic variation and phenotypic data using HmtPhenome

2019-06-04

Abstract excerpt

A full understanding of relationships between variants, genes, phenotypes and diseases is often overlooked when investigating mitochondrial functionality in both healthy and pathological situations. Gaining a comprehensive overview of this network can indeed offer interesting insights, and guide researchers and clinicians towards a full-spectrum knowledge of the mitochondrial system. Given the current lack of tool...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: db6f65a3-2847-5341-a18c-ffe29b58f1c2
DOI: 10.1101/660282

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Integration of genomic variation and phenotypic data using HmtPhenomeDOI 10.1101/660282Read

HmtVar: a brand-new resource for human mitochondrial variations and pathogenicity dataSemantic proximity Read

Human mitochondrial variant annotation with HmtNoteSemantic proximity Read

Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.Semantic proximity Read

mtDNA-Network: a web tool to explore mitochondrial variant profiles in complex diseasesSemantic proximity Read

mitoXplorer, a visual data mining platform to systematically analyze and visualize mitochondrial expression dynamics and mutations.Semantic proximity Read

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.Semantic proximity Read

Mitochondrial pathogenic variants in Whole Exome Sequencing data: from screening to diagnosis and follow-upSemantic proximity Read

mitoPADdb: A database of mitochondrial proteins associated with diseases.Semantic proximity Read

Leigh map: A novel computational diagnostic resource for mitochondrial disease.Semantic proximity Read

mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets.Semantic proximity Read

MetroNome — a visual data exploration platform for integrating human genotypic and phenotypic data across diseasesSemantic proximity Read

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.Semantic proximity Read