Evidence map›Paper›PMID 28543951›Full record

ArticleMolecular ecology2017

Determination of genetic relatedness from low-coverage human genome sequences using pedigree simulations.

Michael D Martin, Flora Jay, Sergi Castellano, Montgomery Slatkin

Abstract read
In one paragraph

Article in Molecular ecology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

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

8 citing papers in PubMed.

  1. Article
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  5. Review
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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

4 authors.

Michael D MartinDepartment of Natural History, NTNU University Museum, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.ORCID http://orcid.org/0000-0002-2010-5139
Flora JayCenter for Theoretical Evolutionary Genomics, Department of Integrative Biology, University of California Berkeley, Berkeley, CA, USA.
Sergi CastellanoDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Montgomery SlatkinCenter for Theoretical Evolutionary Genomics, Department of Integrative Biology, University of California Berkeley, Berkeley, CA, USA.

Funding

MODELS OF COMPLEX GENETIC SYSTEMSR01GM040282 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI SLATKIN, MONTGOMERY WILSON · 1988 to 2017
$4.4M
NIGMS NIH HHS R01 GM040282
6 · The paper itself

Abstract

We develop and evaluate methods for inferring relatedness among individuals from low-coverage DNA sequences of their genomes, with particular emphasis on sequences obtained from fossil remains. We suggest the major factors complicating the determination of relatedness among ancient individuals are sequencing depth, the number of overlapping sites, the sequencing error rate and the presence of contamination from present-day genetic sources. We develop a theoretical model that facilitates the exploration of these factors and their relative effects, via measurement of pairwise genetic distances, without calling genotypes, and determine the power to infer relatedness under various scenarios of varying sequencing depth, present-day contamination and sequencing error. The model is validated by a simulation study as well as the analysis of aligned sequences from present-day human genomes. We then apply the method to the recently published genome sequences of ancient Europeans, developing a statistical treatment to determine confidence in assigned relatedness that is, in some cases, more precise than previously reported. As the majority of ancient specimens are from animals, this method would be applicable to investigate kinship in nonhuman remains. The developed software grups (Genetic Relatedness Using Pedigree Simulations) is implemented in Python and freely available.

Indexed as

Computer SimulationGenome, HumanModels, GeneticPedigreeGenotypeHumansPolymorphism, Single NucleotideSoftwareancient DNAcomputer simulationDNAgeneticsgenomegenomicshumanspedigreepolymorphismrelatednesssingle nucleotide

Identifiers

PMID28543951
PMCPMC6485253

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Registered trials

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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.