Evidence map›Paper›PMID 29082913›Full record

ReviewNature reviews. Genetics2018

Human gene essentiality.

István Bartha, Julia di Iulio, J Craig Venter, Amalio Telenti

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
138citing papers in PubMed, 1 pooled it
23.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

138 citing papers in PubMed, 1 synthesis or guideline pooled it, 265 citations in OpenAlex.

  1. Pooled it
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78 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

István BarthaHuman Longevity Inc., San Diego, California 92121, USA.
Julia di IulioHuman Longevity Inc., San Diego, California 92121, USA.
J Craig VenterHuman Longevity Inc., San Diego, California 92121, USA.
Amalio TelentiHuman Longevity Inc., San Diego, California 92121, USA.
Human Longevity (United States) · USJ. Craig Venter Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A gene can be defined as essential when loss of its function compromises viability of the individual (for example, embryonic lethality) or results in profound loss of fitness. At the population level, identification of essential genes is accomplished by observing intolerance to loss-of-function variants. Several computational methods are available to score gene essentiality, and recent progress has been made in defining essentiality in the non-coding genome. Haploinsufficiency is emerging as a critical aspect of gene essentiality: approximately 3,000 human genes cannot tolerate loss of one of the two alleles. Genes identified as essential in human cell lines or knockout mice may be distinct from those in living humans. Reconciling these discrepancies in how we evaluate gene essentiality has applications in clinical genetics and may offer insights for drug development.

Indexed as

Genes, EssentialAnimalsGenetic VariationGenome, HumanGenomicsHaploinsufficiencyHumansMiceMice, KnockoutRNA, UntranslatedRNA, Untranslated

Identifiers

PMID29082913
OpenAlexW2765720106

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.