Evidence map›Paper›PMID 29028986›Full record

ArticleBioinformatics (Oxford, England)2018

A new haplotype block detection method for dense genome sequencing data based on interval graph modeling of clusters of highly correlated SNPs.

Sun Ah Kim, Chang-Sung Cho, Suh-Ryung Kim, Shelley B Bull, Yun Joo Yoo

Open access · bronzeAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
4.0field-weighted citation impact, top 6% 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

31 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.

  1. Pooled it
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  16. SNP- and haplotype-based single-step genomic predictions for body weight, wool, and reproductive traits in North American Rambouillet sheep.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2023
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  20. A major-effect genetic locus, ApRVII, controlling resistance against both adapted and non-adapted aphid biotypes in pea.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2022
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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

5 authors at 3 institutions in 2 countries.

Sun Ah KimDepartment of Statistics.
Chang-Sung ChoDepartment of Mathematics Education, Seoul National University, Seoul 08826, South Korea.
Suh-Ryung KimDepartment of Mathematics Education, Seoul National University, Seoul 08826, South Korea.
Shelley B BullProsserman Centre for Health Research, The Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto M5T 3L9, Canada.
Yun Joo YooDepartment of Mathematics Education, Seoul National University, Seoul 08826, South Korea.
Seoul National University of Education · KRSeoul National University · KRUniversity of Toronto · CA

Funding

CIHR MOP-84287
6 · The paper itself

Abstract

Motivation: Linkage disequilibrium (LD) block construction is required for research in population genetics and genetic epidemiology, including specification of sets of single nucleotide polymorphisms (SNPs) for analysis of multi-SNP based association and identification of haplotype blocks in high density sequencing data. Existing methods based on a narrow sense definition do not allow intermediate regions of low LD between strongly associated SNP pairs and tend to split high density SNP data into small blocks having high between-block correlation. Results: We present Big-LD, a block partition method based on interval graph modeling of LD bins which are clusters of strong pairwise LD SNPs, not necessarily physically consecutive. Big-LD uses an agglomerative approach that starts by identifying small communities of SNPs, i.e. the SNPs in each LD bin region, and proceeds by merging these communities. We determine the number of blocks using a method to find maximum-weight independent set. Big-LD produces larger LD blocks compared to existing methods such as MATILDE, Haploview, MIG ++, or S-MIG ++ and the LD blocks better agree with recombination hotspot locations determined by sperm-typing experiments. The observed average runtime of Big-LD for 13 288 240 non-monomorphic SNPs from 1000 Genomes Project autosome data (286 East Asians) is about 5.83 h, which is a significant improvement over the existing methods. Availability and implementation: Source code and documentation are available for download at http://github.com/sunnyeesl/BigLD. Contact: yyoo@snu.ac.kr. Supplementary information: Supplementary data are available at Bioinformatics online.

Indexed as

Genome, HumanHaplotypesPolymorphism, Single NucleotideAlgorithmsAsian PeopleGenetics, PopulationHumansLinkage DisequilibriumModels, GeneticSequence Analysis, DNA

Identifiers

PMID29028986
PMCPMC5860363
OpenAlexW2761940999

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.