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

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

Human mutation - 1 Jun 2009

Dobrowolski Steven F, Hendrickx Alexandra T M, van den Bosch Bianca J C, Smeets Hubert J M, Gray Jesse, Miller Trent, Sears Mitch

Abstract excerpt

Identifying mitochondrial DNA (mtDNA) sequence variants in human diseases is complicated. Many pathological mutations are heteroplasmic, with the mutant allele represented at highly variable percentages. High-resolution melt (HRM or HRMA) profiling was applied to comprehensive assessment of the mitochondrial genome and targeted assessment of recognized pathological mutations. The assay panel providing...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genome, Mitochondrial

Share to Genotype

Share to Mutation

Share to Nucleic Acid Denaturation

Source

Identifiers

PMID: 19370763
DOI: 10.1002/humu.21003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.PMID 19370763Read ↗

Haplotype and Presence-Absence Variation Analysis Using High-Resolution Melting (HRM) Analysis for Genotyping Genes of Interest.Semantic proximity Read ↗

Genotyping by high-resolution melting analysis.Semantic proximity Read ↗

Genotyping DNA Variants with High-Resolution Melting Analysis.Semantic proximity Read ↗

Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy.Semantic proximity Read ↗

High-frequency and functional mitochondrial DNA mutations at the single-cell level.Semantic proximity Read ↗

Enhanced primer selection and synthetic amplicon templates optimize high-resolution melting analysis of single-nucleotide polymorphisms in a large population.Semantic proximity Read ↗

Evaluation of MASSARRAY technique in detecting mitochondrial disease mutations.Semantic proximity Read ↗

High-resolution melting analysis (HRMA): more than just sequence variant screening.Semantic proximity Read ↗

Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction.Semantic proximity Read ↗

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing.Semantic proximity Read ↗

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

Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis.Semantic proximity Read ↗

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