MitImpact
MitImpact is a collection of genomic, clinical, and functional annotations for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein-coding genes
Description
More detailed information about this field from each metasource.
MitImpact is a collection of genomic, clinical, and functional annotations for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein-coding genes
metasource: Fairsharing.orgversion: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
Webpage:
https://mitimpact.css-mendel.it/Webpage
More detailed information about this field from each metasource.
https://mitimpact.css-mendel.it/
metasource: Fairsharing.orgversion: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants
PMID: 25516408
metasource: Fairsharing.org
version: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE
PMID: 28640805
metasource: Fairsharing.org
version: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
Publications
More detailed information about this field from each metasource.
MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants
PMID: 25516408
metasource: Fairsharing.org
version: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE
PMID: 28640805
metasource: Fairsharing.org
version: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
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MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants
PubMed citations: 28.
28 articles citing: MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants
Mitochondrial DNA variation in Parkinson's disease: Analysis of "out-of-place" population variants as a risk factor. PMID:35912088
Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application. PMID:35350246
Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines. PMID:35110616
Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. PMID:34303007
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. PMID:34045482
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits. PMID:33300029
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. PMID:33233726
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. PMID:32960281
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Mitochondrial DNA mutations in Malaysian female breast cancer patients. PMID:32442190
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. PMID:32439066
Pronounced somatic bottleneck in mitochondrial DNA of human hair. PMID:31787049
Sharing of heteroplasmies between human liver lobes varies across the mtDNA genome. PMID:31375696
Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms. PMID:30680691
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. PMID:30619459
Mitochondrial DNA Mutations are Associated with Ulcerative Colitis Preneoplasia but Tend to be Negatively Selected in Cancer. PMID:30446624
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing. PMID:29756269
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy. PMID:29444077
Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations. PMID:29179728
Genomic and immunohistochemical characterisation of a lacrimal gland oncocytoma and review of literature. PMID:28943925
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. PMID:28771251
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE. PMID:28640805
Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder. PMID:28419775
A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs. PMID:28185569
Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility. PMID:27904151
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder. PMID:27792786
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest. PMID:26621530
Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma. PMID:26262956 -
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE
PubMed citations: 27.
27 articles citing: High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data. PMID:35591888
Identification of Somatic Mitochondrial DNA Mutations, Heteroplasmy, and Increased Levels of Catenanes in Tumor Specimens Obtained from Three Endometrial Cancer Patients. PMID:35455053
Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy. PMID:35441061
Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application. PMID:35350246
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. PMID:35217561
Mitochondrial DNA variation across 56,434 individuals in gnomAD. PMID:35074858
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas. PMID:35053433
Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion. PMID:34953462
MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins. PMID:34938415
Metabolic therapy and bioenergetic analysis: The missing piece of the puzzle. PMID:34749013
Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus. PMID:34478492
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. PMID:34045482
Whole mitochondrial genome analysis in Chinese patients with keratoconus. PMID:34012229
Respiratory complex and tissue lineage drive recurrent mutations in tumour mtDNA. PMID:33833465
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits. PMID:33300029
Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein. PMID:33276468
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. PMID:33233726
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy. PMID:32718021
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. PMID:32439066
OXPHOS remodeling in high-grade prostate cancer involves mtDNA mutations and increased succinate oxidation. PMID:32198407
Analysis of functional variants in mitochondrial DNA of Finnish athletes. PMID:31664900
The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects. PMID:31233840
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. PMID:30619459
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. PMID:30595373
Integrated Genomic Analysis of Hürthle Cell Cancer Reveals Oncogenic Drivers, Recurrent Mitochondrial Mutations, and Unique Chromosomal Landscapes. PMID:30107176
Dataset of mitochondrial genome variants in oncocytic tumors. PMID:29876471
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sequence position
metasource: Fairsharing.org
version: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
Tags
More detailed information about this field from each metasource.
sequence position
metasource: Fairsharing.orgversion: FAIRsharing.org: MitImpact; MitImpact; DOI: https://doi.org/10.25504/FAIRsharing.Q7gFA9; Last edited: Jan. 25, 2021, 4:28 p.m.; Last accessed: Jan 03 2022 7:05 p.m.
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