Evidence map›Paper›PMID 26715670›Full record

ArticleGenetics2016

Imputing Genotypes in Biallelic Populations from Low-Coverage Sequence Data.

Christopher A Fragoso, Christopher Heffelfinger, Hongyu Zhao, Stephen L Dellaporta

Abstract read
In one paragraph

Article in Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing 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

35 citing papers in PubMed.

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  8. Genotyping of SNPs in bread wheat at reduced cost from pooled experiments and imputation.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2024
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  15. Genotype imputation for soybean nested association mapping population to improve precision of QTL detection.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2022
    Article
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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.

Christopher A FragosoProgram of Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520 Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut 06520.
Christopher HeffelfingerDepartment of Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut 06520.
Hongyu ZhaoProgram of Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520 Department of Biostatistics, Yale School of Public Health, Yale University, New Haven, Connecticut 06520.
Stephen L DellaportaDepartment of Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut 06520 stephen.dellaporta@yale.edu.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Yale Pathology Tissue Services Shared ResourceP30CA016359 · NCI · YALE UNIVERSITY · PI DAVID L RIMM · 1985 to 2026
$85.0M
MEDICAL INFORMATICS RESEARCH TRAINING AT YALET15LM007056 · NLM · YALE UNIVERSITY · PI Mark Bender Gerstein, LUCILA OHNO-MACHADO · 1987 to 2026
$22.2M
STATISTICAL METHODS TO MAP GENES FOR COMPLEX TRAITSR01GM059507 · NIGMS · YALE UNIVERSITY · PI ZHAO, HONGYU · 1999 to 2013
$3.6M
YALE BIOMEDICAL SUPERCOMPUTER: NEUROSCIENCES10RR019895 · NCRR · YALE UNIVERSITY · PI WILLIAMS, KENNETH ROBERT · 2004 to 2004
$1.6M
High Performance Computing Instrumentation for Yale University Biomedical HPC CenS10RR029676 · NCRR · YALE UNIVERSITY · PI BJORNSON, ROBERT DEAN · 2011 to 2011
$588k
NCATS NIH HHS UL1 TR001863NCI NIH HHS P30 CA016359NCRR NIH HHS RR-029676-01NCRR NIH HHS RR-19895NCRR NIH HHS S10 RR019895NCRR NIH HHS S10 RR029676NIGMS NIH HHS R01 GM059507NIGMS NIH HHS R01-GM59507NLM NIH HHS T15 LM007056
6 · The paper itself

Abstract

Low-coverage next-generation sequencing methodologies are routinely employed to genotype large populations. Missing data in these populations manifest both as missing markers and markers with incomplete allele recovery. False homozygous calls at heterozygous sites resulting from incomplete allele recovery confound many existing imputation algorithms. These types of systematic errors can be minimized by incorporating depth-of-sequencing read coverage into the imputation algorithm. Accordingly, we developed Low-Coverage Biallelic Impute (LB-Impute) to resolve missing data issues. LB-Impute uses a hidden Markov model that incorporates marker read coverage to determine variable emission probabilities. Robust, highly accurate imputation results were reliably obtained with LB-Impute, even at extremely low (<1×) average per-marker coverage. This finding will have implications for the design of genotype imputation algorithms in the future. LB-Impute is publicly available on GitHub at https://github.com/dellaporta-laboratory/LB-Impute.

Indexed as

AllelesGenetics, PopulationGenomicsGenotypeHigh-Throughput Nucleotide SequencingModels, GeneticAlgorithmsGenome, PlantGenome-Wide Association StudyMarkov ChainsPlantsReproducibility of ResultsSimulation Traininghidden Markov modelsimputationnext-generation sequencingplant genomicspopulation genetics

Identifiers

PMID26715670
PMCPMC4788230

What OpenQuestion 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 OpenQuestion graph.