Evidence map›Paper›PMID 37676865›Full record

ArticlePLoS genetics2023

Modeling of African population history using f-statistics is biased when applying all previously proposed SNP ascertainment schemes.

Pavel Flegontov, Ulaş Işıldak, Robert Maier, Eren Yüncü, Piya Changmai, David Reich

Abstract read
In one paragraph

Article in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–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

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3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Pavel FlegontovDepartment of Human Evolutionary Biology, Harvard University, Cambridge, Massachusetts, United States of America.ORCID 0000-0001-9759-4981
Ulaş IşıldakDepartment of Biology and Ecology, Faculty of Science, University of Ostrava, Ostrava, Czechia.ORCID 0000-0001-6497-6254
Robert MaierDepartment of Human Evolutionary Biology, Harvard University, Cambridge, Massachusetts, United States of America.
Eren YüncüDepartment of Biology and Ecology, Faculty of Science, University of Ostrava, Ostrava, Czechia.
Piya ChangmaiDepartment of Biology and Ecology, Faculty of Science, University of Ostrava, Ostrava, Czechia.
David ReichDepartment of Human Evolutionary Biology, Harvard University, Cambridge, Massachusetts, United States of America.ORCID 0000-0002-7037-5292

Funding

Solving ascertainment bias in ancient DNA using Ultima Genomics sequencingR01HG012287 · NHGRI · HARVARD MEDICAL SCHOOL · PI REICH, DAVID E · 2021 to 2025
$2.7M
NHGRI NIH HHS R01 HG012287
6 · The paper itself

Abstract

f-statistics have emerged as a first line of analysis for making inferences about demographic history from genome-wide data. Not only are they guaranteed to allow robust tests of the fits of proposed models of population history to data when analyzing full genome sequencing data-that is, all single nucleotide polymorphisms (SNPs) in the individuals being analyzed-but they are also guaranteed to allow robust tests of models for SNPs ascertained as polymorphic in a population that is an outgroup in a phylogenetic sense to all groups being analyzed. True "outgroup ascertainment" is in practice impossible in humans because our species has arisen from a substructured ancestral population that does not descend from a homogeneous ancestral population going back many hundreds of thousands of years into the past. However, initial studies suggested that non-outgroup-ascertainment schemes might produce robust enough results using f-statistics, and that motivated widespread fitting of models to data using non-outgroup-ascertained SNP panels such as the "Affymetrix Human Origins array" which has been genotyped on thousands of modern individuals from hundreds of populations, or the "1240k" in-solution enrichment reagent which has been the source of about 70% of published genome-wide data for ancient humans. In this study, we show that while analyses of population history using such panels work well for studies of relationships among non-African populations and one African outgroup, when co-modeling more than one sub-Saharan African and/or archaic human groups (Neanderthals and Denisovans), fitting of f-statistics to such SNP sets is expected to frequently lead to false rejection of true demographic histories, and failure to reject incorrect models. Analyzing panels of SNPs polymorphic in archaic humans, which has been suggested as a solution for the ascertainment problem, has limited statistical power and retains important biases. However, by carrying out simulations of diverse demographic histories, we show that bias in inferences based on f-statistics can be minimized by ascertaining on variants common in a union of diverse African groups; such ascertainment retains high statistical power while allowing co-analysis of archaic and modern groups.

Indexed as

African PeopleDemographyPhylogenyPolymorphism, Single NucleotideAnimalsBiasBiological Variation, PopulationBlack PeopleChromosome MappingGenotypeHumansModels, StatisticalNeanderthals

Identifiers

PMID37676865
PMCPMC10508636

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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.