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

Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

Trends in molecular medicine - 1 Apr 2016

Narasimhan Vagheesh M, Xue Yali, Tyler-Smith Chris

Abstract excerpt

Whole-genome and whole-exome sequence data from large numbers of individuals reveal that we all carry many variants predicted to inactivate genes (knockouts). This discovery raises questions about the phenotypic consequences of these knockouts and potentially allows us to study human gene function through the investigation of homozygous loss-of-function carriers. Here, we discuss strategies, recent results, 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 Gene Silencing
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genetics, Population

Share to Genome, Human

Share to Heterozygote

Share to Selection, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 26988438
DOI: 10.1016/j.molmed.2016.02.006
PMCID: PMC4826344

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

Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?PMID 26988438Read ↗

Human knockout research: new horizons and opportunities.Semantic proximity Read ↗

Identification of a large set of rare complete human knockouts.Semantic proximity Read ↗

Evaluating potential drug targets through human loss-of-function genetic variationSemantic proximity Read ↗

A systematic survey of loss-of-function variants in human protein-coding genes.Semantic proximity Read ↗

A deep catalogue of protein-coding variation in 983,578 individuals.Semantic proximity Read ↗

Health and population effects of rare gene knockouts in adult humans with related parents.Semantic proximity Read ↗

The mutational constraint spectrum quantified from variation in 141,456 humansSemantic proximity Read ↗

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read ↗

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variantsSemantic proximity Read ↗

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Semantic proximity Read ↗

Non-Coding Loss-of-Function Variation in Human Genomes.Semantic proximity Read ↗

Health and population effects of rare gene knockouts in adult humans with related parentsSemantic proximity Read ↗

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