ReviewTrends in molecular medicine2016
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
Review in Trends in molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed.
- Insights from human NF-κB knockouts.EMBO reports · 2025Review
- Plasma Metabolic Outliers Identified in Estonian Human Knockouts.Metabolites · 2025Article
- Emerging significance of butyrylcholinesterase.World journal of experimental medicine · 2024Review
- Essential genes: a cross-species perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.European journal of human genetics : EJHG · 2023Article
- Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.Human molecular genetics · 2023Article
- High throughput mutagenesis and screening for yeast engineering.Journal of biological engineering · 2022Review
- Article
- Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.Genetics, selection, evolution : GSE · 2021Article
- A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice.Molecular biology and evolution · 2021Article
- The genetic structure of the Turkish population reveals high levels of variation and admixture.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.European journal of human genetics : EJHG · 2021Article
- Rare versus common diseases: a false dichotomy in precision medicine.NPJ genomic medicine · 2021Review
- Embracing human genetics: a primer for developmental biologists.Development (Cambridge, England) · 2020Review
- Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.European journal of human genetics : EJHG · 2018Article
- Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.Nature communications · 2018Article
- Human genetics of infectious diseases: Unique insights into immunological redundancy.Seminars in immunology · 2018Review
- Avian genomics lends insights into endocrine function in birds.General and comparative endocrinology · 2018Review
- Human gene essentiality.Nature reviews. Genetics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
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 future prospects for large-scale human knockout studies. We examine their relevance to studying gene function, population genetics, and importantly, the implications for accurate clinical interpretations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.