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

Towards precision medicine: advances in computational approaches for the analysis of human variants.

Journal of molecular biology - 1 Nov 2013

Peterson Thomas A, Doughty Emily, Kann Maricel G

Abstract excerpt

Variations and similarities in our individual genomes are part of our history, our heritage, and our identity. Some human genomic variants are associated with common traits such as hair and eye color, while others are associated with susceptibility to disease or response to drug treatment. Identifying the human variations producing clinically relevant phenotypic changes is critical for providing accurate and...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Sequence Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 23962656
DOI: 10.1016/j.jmb.2013.08.008
PMCID: PMC3807015

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

Towards precision medicine: advances in computational approaches for the analysis of human variants.PMID 23962656Read ↗

Identifying highly-penetrant disease causal mutations using next generation sequencing: Guide to whole processSemantic proximity Read ↗

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.Semantic proximity Read ↗

Databases of genomic variation and phenotypes: existing resources and future needs.Semantic proximity Read ↗

Effective variant filtering and expected candidate variant yield in studies of rare human diseaseSemantic proximity Read ↗

Precision Medicine and Rare Genetic Variants.Semantic proximity Read ↗

Genetic variation analysis for biomedical researchers: a primer.Semantic proximity Read ↗

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.Semantic proximity Read ↗

Identifying disease-causing mutations in genomes of single patients by computational approaches.Semantic proximity Read ↗

Understanding human genetic variation in the era of high-throughput sequencing.Semantic proximity Read ↗

Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.Semantic proximity Read ↗

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.Semantic proximity Read ↗

Finding the Rare Pathogenic Variants in a Human Genome.Semantic proximity Read ↗

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