Evidence map›Paper›PMID 28498906›Full record

ArticleDNA research : an international journal for rapid publication of reports on genes and genomes2017

Heap: a highly sensitive and accurate SNP detection tool for low-coverage high-throughput sequencing data.

Masaaki Kobayashi, Hajime Ohyanagi, Hideki Takanashi, Satomi Asano, Toru Kudo, Hiromi Kajiya-Kanegae, Atsushi J Nagano, Hitoshi Tainaka, Tsuyoshi Tokunaga, Takashi Sazuka and 3 more

Abstract read
In one paragraph

Article in DNA research : an international journal for rapid publication of reports on genes and genomes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Review
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  3. Characterization of quantitative trait loci from DJ123 (Molecular breeding : new strategies in plant improvement · 2024
    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

13 authors.

Masaaki KobayashiBioinformatics Laboratory, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan.
Hajime OhyanagiBioinformatics Laboratory, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan.
Hideki TakanashiGraduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo 113-8657, Japan.
Satomi AsanoBioinformatics Laboratory, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan.
Toru KudoBioinformatics Laboratory, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan.
Hiromi Kajiya-KanegaeGraduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo 113-8657, Japan.
Atsushi J NaganoFaculty of Agriculture, Ryukoku University, Shiga 520-2194, Japan.
Hitoshi TainakaGraduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo 113-8657, Japan.
Tsuyoshi TokunagaEARTHNOTE Co. Ltd., Nago, Okinawa 905-1152, Japan.
Takashi SazukaBioscience and Biotechnology Center, Nagoya University, Aichi 464-8601, Japan.
Hiroyoshi IwataGraduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo 113-8657, Japan.
Nobuhiro TsutsumiGraduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo 113-8657, Japan.
Kentaro YanoBioinformatics Laboratory, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent availability of large-scale genomic resources enables us to conduct so called genome-wide association studies (GWAS) and genomic prediction (GP) studies, particularly with next-generation sequencing (NGS) data. The effectiveness of GWAS and GP depends on not only their mathematical models, but the quality and quantity of variants employed in the analysis. In NGS single nucleotide polymorphism (SNP) calling, conventional tools ideally require more reads for higher SNP sensitivity and accuracy. In this study, we aimed to develop a tool, Heap, that enables robustly sensitive and accurate calling of SNPs, particularly with a low coverage NGS data, which must be aligned to the reference genome sequences in advance. To reduce false positive SNPs, Heap determines genotypes and calls SNPs at each site except for sites at the both ends of reads or containing a minor allele supported by only one read. Performance comparison with existing tools showed that Heap achieved the highest F-scores with low coverage (7X) restriction-site associated DNA sequencing reads of sorghum and rice individuals. This will facilitate cost-effective GWAS and GP studies in this NGS era. Code and documentation of Heap are freely available from https://github.com/meiji-bioinf/heap (29 March 2017, date last accessed) and our web site (http://bioinf.mind.meiji.ac.jp/lab/en/tools.html (29 March 2017, date last accessed)).

Indexed as

Polymorphism, Single NucleotideSoftwareGenome, PlantHigh-Throughput Nucleotide SequencingOryzaSequence Analysis, DNASorghumgenome-wide association studies (GWAS)genomic prediction (GP)next-generation sequencing (NGS)restriction-site associated DNA sequencing (RAD-seq)single nucleotide polymorphism (SNP)

Identifiers

PMID28498906
PMCPMC5737671

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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.