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

Inferring causality and functional significance of human coding DNA variants.

Human molecular genetics - 15 Oct 2012

Sunyaev Shamil R

Abstract excerpt

Sequencing technology enables the complete characterization of human genetic variation. Statistical genetics studies identify numerous loci linked to or associated with phenotypes of direct medical interest. The major remaining challenge is to characterize functionally significant alleles that are causally implicated in the genetic basis of human traits. Here, I review three sources of evidence for the functional...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Substitution
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Genome-Wide Association Study

Share to Mutation, Missense

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 22990389
DOI: 10.1093/hmg/dds385
PMCID: PMC3459643

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

Inferring causality and functional significance of human coding DNA variants.PMID 22990389Read ↗

Identification of causal sequence variants of disease in the next generation sequencing era.Semantic proximity Read ↗

Guidelines for investigating causality of sequence variants in human disease.Semantic proximity Read ↗

From variant to function in human disease genetics.Semantic proximity Read ↗

Human allelic variation: perspective from protein function, structure, and evolution.Semantic proximity Read ↗

Association methods in human genetics.Semantic proximity Read ↗

What is a functional locus? Understanding the genetic basis of complex phenotypic traits.Semantic proximity Read ↗

Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.Semantic proximity Read ↗

A systematic approach to understand the functional consequences of non-protein coding risk regions.Semantic proximity Read ↗

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.Semantic proximity Read ↗

Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis.Semantic proximity Read ↗

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.Semantic proximity Read ↗

SNP discovery in associating genetic variation with human disease phenotypes.Semantic proximity Read ↗

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