Evidence map›Paper›PMID 25194160›Full record

ArticleGenetics2014

Using Mendelian inheritance to improve high-throughput SNP discovery.

Nancy Chen, Cristopher V Van Hout, Srikanth Gottipati, Andrew G Clark

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
1.3field-weighted citation impact, top 20% 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

21 citing papers in PubMed, 44 citations in OpenAlex.

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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 at 1 institution in 1 country.

Nancy ChenDepartment of Ecology and Evolutionary Biology, Cornell University, Ithaca, New York 14853 Cornell Laboratory of Ornithology, Cornell University, Ithaca, New York 14853 nc276@cornell.edu.ORCID http://orcid.org/0000-0001-8966-3449
Cristopher V Van HoutDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853.ORCID http://orcid.org/0000-0001-9689-5344
Srikanth GottipatiDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853.
Andrew G ClarkDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853.
Cornell University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Restriction site-associated DNA sequencing or genotyping-by-sequencing (GBS) approaches allow for rapid and cost-effective discovery and genotyping of thousands of single-nucleotide polymorphisms (SNPs) in multiple individuals. However, rigorous quality control practices are needed to avoid high levels of error and bias with these reduced representation methods. We developed a formal statistical framework for filtering spurious loci, using Mendelian inheritance patterns in nuclear families, that accommodates variable-quality genotype calls and missing data--both rampant issues with GBS data--and for identifying sex-linked SNPs. Simulations predict excellent performance of both the Mendelian filter and the sex-linkage assignment under a variety of conditions. We further evaluate our method by applying it to real GBS data and validating a subset of high-quality SNPs. These results demonstrate that our metric of Mendelian inheritance is a powerful quality filter for GBS loci that is complementary to standard coverage and Hardy-Weinberg filters. The described method, implemented in the software MendelChecker, will improve quality control during SNP discovery in nonmodel as well as model organisms.

Indexed as

AnimalsComputer SimulationGene FrequencyGenetic LinkageGenotypeHigh-Throughput Nucleotide SequencingInheritance PatternsPasseriformesPolymorphism, Single NucleotideReproducibility of ResultsSequence Analysis, DNASoftwaregenotyping-by-sequencingMendelian inheritancepedigreesRAD-seqSNP discovery

Identifiers

PMID25194160
PMCPMC4224174
OpenAlexW2145051198

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.