Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.

BMC genomics - 1 Jan 2014

Diroma Maria Angela, Calabrese Claudia, Simone Domenico, Santorsola Mariangela, Calabrese Francesco Maria, Gasparre Giuseppe, Attimonelli Marcella

Abstract excerpt

BACKGROUND: Whole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequence similarity with baits. Bioinformatics tools have been optimized to retrieve a large amount of WES off-target mitochondrial DNA (mtDNA), by exploiting the aspecificity of probes, partially...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cluster Analysis
Share to Datasets as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Mitochondrial

Share to INDEL Mutation

Share to Molecular Sequence Annotation

Share to Population Groups

Share to Reproducibility of Results

Source

Open in PubMed Open full text

Identifiers

PMID: 25077682
DOI: 10.1186/1471-2164-15-S3-S2
PMCID: PMC4083402

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.PMID 25077682Read ↗

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing.Semantic proximity Read ↗

A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence dataSemantic proximity Read ↗

Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Semantic proximity Read ↗

A full-length mtDNA dataset for studying genetic variations across generations and complex family structures.Semantic proximity Read ↗

<i>mity</i> : A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing dataSemantic proximity Read ↗

Whole exome sequencing of suspected mitochondrial patients in clinical practice.Semantic proximity Read ↗

Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing.Semantic proximity Read ↗

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.Semantic proximity Read ↗

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSemantic proximity Read ↗

High-throughput sequencing in mitochondrial DNA research.Semantic proximity Read ↗

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.Semantic proximity Read ↗

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.