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

Genetic variation in an individual human exome.

PLoS genetics - 15 Aug 2008

Ng Pauline C, Levy Samuel, Huang Jiaqi, Stockwell Timothy B, Walenz Brian P, Li Kelvin, Axelrod Nelson, Busam Dana A, Strausberg Robert L, Venter J Craig

Abstract excerpt

There is much interest in characterizing the variation in a human individual, because this may elucidate what contributes significantly to a person's phenotype, thereby enabling personalized genomics. We focus here on the variants in a person's 'exome,' which is the set of exons in a genome, beca...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Gene Frequency
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 18704161
DOI: 10.1371/journal.pgen.1000160
PMCID: PMC2493042

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18704161-2026-09-02.2. 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

Genetic variation in an individual human exome.PMID 18704161Read ↗

Genomes in a bottle: creating standard reference materials for genomic variation - why, what and how?Semantic proximity Read ↗

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.Semantic proximity Read ↗

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.Semantic proximity Read ↗

Findings of a 1303 Korean whole-exome sequencing study.Semantic proximity Read ↗

Diagnosing rare diseases after the exome.Semantic proximity Read ↗

Exome sequencing in genetic disease: recent advances and considerationsSemantic proximity Read ↗

Who would benefit from exome sequencing?Semantic proximity Read ↗

Exome sequencing analysis: a guide to disease variant detection.Semantic proximity Read ↗

Sequencing your genome: what does it mean?Semantic proximity Read ↗

The GENCODE exome: sequencing the complete human exome.Semantic proximity Read ↗

What can exome sequencing do for you?Semantic proximity Read ↗

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own ExperienceSemantic proximity Read ↗

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