Evidence map›Paper›PMID 21764165›Full record

ReviewTrends in genetics : TIG2011

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.

Sudhir Kumar, Joel T Dudley, Alan Filipski, Li Liu

Abstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

51 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Principles of metabolome conservation in animals.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  7. Article
  8. Article
  9. Article
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  11. Article
  12. Article
  13. Article
  14. Article
  15. Neutral Theory, Disease Mutations, and Personal Exomes.Molecular biology and evolution · 2018
    Article
  16. Earth BioGenome Project: Sequencing life for the future of life.Proceedings of the National Academy of Sciences of the United States of America · 2018
    Article
  17. Review
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Sudhir KumarSchool of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA. s.kumar@asu.edu
Joel T Dudley
Alan Filipski
Li Liu

Funding

COMPARATIVE MOLECULAR SEQUENCE ANALYSISR01HG002096 · NHGRI · ARIZONA STATE UNIVERSITY-TEMPE CAMPUS · PI KUMAR, SUDHIR · 2000 to 2013
$3.0M
Evolutionary Bioinformatics of Human MutationsR01LM010834 · NLM · ARIZONA STATE UNIVERSITY-TEMPE CAMPUS · PI KUMAR, SUDHIR · 2010 to 2012
$1.1M
NHGRI NIH HHS R01 HG002096NLM NIH HHS R01 LM010834
6 · The paper itself

Abstract

Modern technologies have made the sequencing of personal genomes routine. They have revealed thousands of nonsynonymous (amino acid altering) single nucleotide variants (nSNVs) of protein-coding DNA per genome. What do these variants foretell about an individual's predisposition to diseases? The experimental technologies required to carry out such evaluations at a genomic scale are not yet available. Fortunately, the process of natural selection has lent us an almost infinite set of tests in nature. During long-term evolution, new mutations and existing variations have been evaluated for their biological consequences in countless species, and outcomes are readily revealed by multispecies genome comparisons. We review studies that have investigated evolutionary characteristics and in silico functional diagnoses of nSNVs found in thousands of disease-associated genes. We conclude that the patterns of long-term evolutionary conservation and permissible sequence divergence are essential and instructive modalities for functional assessment of human genetic variations.

Indexed as

Genetic Predisposition to DiseaseMutationComputer SimulationEvolution, MolecularGenetic Diseases, InbornGenetics, MedicalGenetic TestingGenetic VariationGenomicsHumansModels, GeneticPenetrancePolymorphism, Single Nucleotide

Identifiers

PMID21764165
PMCPMC3272884

What OpenQuestion holds

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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 OpenQuestion graph.