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

Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.

PloS one - 17 Aug 2009

Nikolaev Sergey I, Iseli Christian, Sharp Andrew J, Robyr Daniel, Rougemont Jacques, Gehrig Corinne, Farinelli Laurent, Antonarakis Stylianos E

Abstract excerpt

Detection of the rare polymorphisms and causative mutations of genetic diseases in a targeted genomic area has become a major goal in order to understand genomic and phenotypic variability. We have interrogated repeat-masked regions of 8.9 Mb on human chromosomes 21 (7.8 Mb) and 7 (1.1 Mb) from a...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 21
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 19684856
DOI: 10.1371/journal.pone.0006659
PMCID: PMC2722027

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19684856-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing.PMID 19684856Read ↗

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.Semantic proximity Read ↗

Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale.Semantic proximity Read ↗

Microarray-based genomic selection for high-throughput resequencing.Semantic proximity Read ↗

Whole-Genome Genotyping Using DNA Microarrays for Population Genetics.Semantic proximity Read ↗

High-throughput, high-accuracy array-based resequencing.Semantic proximity Read ↗

A SNP resource for human chromosome 22: extracting dense clusters of SNPs from the genomic sequence.Semantic proximity Read ↗

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.Semantic proximity Read ↗

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.Semantic proximity Read ↗

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.Semantic proximity Read ↗

Direct selection of human genomic loci by microarray hybridization.Semantic proximity Read ↗

High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencingSemantic proximity Read ↗

Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel.Semantic proximity Read ↗

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