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

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

Nucleic acids research - 15 Feb 1998

Rieder M J, Taylor S L, Tobe V O, Nickerson D A

Abstract excerpt

Diagnostic re-sequencing plays a central role in medical and evolutionary genetics. In this report we describe a process that applies fluorescence-based re-sequencing and an integrated set of analysis tools to automate and simplify the identification of DNA variations using the human mitochondrial genome as a model system. Two programs used in genome sequence analysis (Phred, a base-caller, and Phrap, a sequence...

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 About Contact Helena Bioinformatics

Share to DNA Primers

Share to Genetic Variation

Share to Heterozygote

Share to Molecular Sequence Data

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 9461455
DOI: 10.1093/nar/26.4.967
PMCID: PMC147367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.PMID 9461455Read ↗

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing.Semantic proximity Read ↗

PolyPhred analysis software for mutation detection from fluorescence-based sequence data.Semantic proximity Read ↗

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.Semantic proximity Read ↗

Automating sequence-based detection and genotyping of SNPs from diploid samples.Semantic proximity Read ↗

MitoVisualize: A resource for analysis of variants in human mitochondrial RNAs and DNASemantic proximity Read ↗

Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products.Semantic proximity Read ↗

Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genomeSemantic proximity Read ↗

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.Semantic proximity Read ↗

Accurate whole human genome sequencing using reversible terminator chemistry.Semantic proximity Read ↗

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.Semantic proximity Read ↗

Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study.Semantic proximity Read ↗

Streamlined analysis of duplex sequencing data with Du Novo.Semantic proximity Read ↗

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