Evidence map›Paper›PMID 32853200›Full record

ArticlePLoS genetics2020

Learning the properties of adaptive regions with functional data analysis.

Mehreen R Mughal, Hillary Koch, Jinguo Huang, Francesca Chiaromonte, Michael DeGiorgio

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

20 citing papers in PubMed, 27 citations in OpenAlex.

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  8. Digital Image Processing to Detect Adaptive Evolution.Molecular biology and evolution · 2024
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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

5 authors at 2 institutions in 1 country.

Mehreen R MughalBioinformatics and Genomics at the Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania, United States of America.ORCID 0000-0002-1960-3261
Hillary KochDepartment of Statistics, Pennsylvania State University, University Park, Pennsylvania, United States of America.ORCID 0000-0003-0621-8986
Jinguo HuangBioinformatics and Genomics at the Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania, United States of America.
Francesca ChiaromonteDepartment of Statistics, Pennsylvania State University, University Park, Pennsylvania, United States of America.
Michael DeGiorgioDepartment of Computer and Electrical Engineering and Computer Science, Florida Atlantic University, Boca Raton, Florida, United States of America.ORCID 0000-0003-4908-7234
Pennsylvania State University · USFlorida Atlantic University · US

Funding

Identifying complex modes of adaptation from population-genomic dataR35GM128590 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI Michael DeGiorgio · 2018 to 2026
$2.8M
Computation, Bioinformatics, and Statistics (CBIOS) Training ProgramT32GM102057 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI CHIAROMONTE, FRANCESCA, GIRIRAJAN, SANTHOSH · 2013 to 2022
$2.7M
Statistical methods for differential peak detection in Hi-C dataF31HG010574 · NHGRI · PENNSYLVANIA STATE UNIVERSITY, THE · PI KOCH, HILLARY · 2019 to 2020
$60k
NHGRI NIH HHS F31 HG010574NIGMS NIH HHS R35 GM128590NIGMS NIH HHS T32 GM102057
6 · The paper itself

Abstract

Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to functional data. By transforming our discrete data points to be outputs of continuous functions defined over genomic space, we are able to learn the features of these functions that signify selection. This enables us to confidently identify complex modes of natural selection, including adaptive introgression. We are also able to predict important selection parameters that are responsible for shaping the inferred selection events. By applying our model to human population-genomic data, we recapitulate previously identified regions of selective sweeps, such as OCA2 in Europeans, and predict that its beneficial mutation reached a frequency of 0.02 before it swept 1,802 generations ago, a time when humans were relatively new to Europe. In addition, we identify BNC2 in Europeans as a target of adaptive introgression, and predict that it harbors a beneficial mutation that arose in an archaic human population that split from modern humans within the hypothesized modern human-Neanderthal divergence range.

Indexed as

Models, GeneticMutation RateAnimalsDNA-Binding ProteinsGenetic VariationHumansMembrane Transport ProteinsNeanderthalsSelection, GeneticSoftwareWhite PeopleBNC2 protein, humanDNA-Binding ProteinsMembrane Transport ProteinsOCA2 protein, human

Identifiers

PMID32853200
PMCPMC7480868
OpenAlexW3081293193

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.