Evidence map›Paper›PMID 24387001›Full record

ArticleBMC bioinformatics2014

Critical assessment of coalescent simulators in modeling recombination hotspots in genomic sequences.

Tao Yang, Hong-Wen Deng, Tianhua Niu

Abstract read
In one paragraph

Article in BMC bioinformatics, 2014. 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. 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

3 authors.

Tao Yang
Hong-Wen Deng
Tianhua NiuCenter for Bioinformatics and Genomics, Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, 1440 Canal Street, Suite 2001, New Orleans, LA 70112, USA. tniu@tulane.edu.

Funding

Proteome-wide Expression Study of Osteogenic CellsP50AR055081 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2007 to 2012
$5.0M
ROBUST AND POWERFUL TEST OF CANDIDATE GENES TO BONE MASSR01AR050496 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2004 to 2013
$3.8M
Epigenomewide DNA Methylation Study for Osteoporosis RiskR01AR059781 · NIAMS · TULANE UNIVERSITY OF LOUISIANA · PI DENG, HONG-WEN · 2012 to 2016
$3.1M
Identification of Proteins Important for Male OsteoporosisR01AR057049 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2009 to 2013
$2.4M
Genomic search for bone mass QTLsR01AG026564 · NIA · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2007 to 2010
$2.3M
Proteomics Study of Peripheral Blood Monocytes on OsteroporsisR21AG027110 · NIA · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2006 to 2007
$367k
Alcohol Dependence Genetics in a Large Chinese PedigreeR21AA015973 · NIAAA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2007 to 2008
$345k
Genetics of Osteoporotic Fractures in ChineseR03TW008221 · FIC · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2009 to 2011
$171k
FIC NIH HHS R03TW008221NIAAA NIH HHS R21AA015973NIAMS NIH HHS P50 AR055081NIAMS NIH HHS R01 AR050496NIAMS NIH HHS R01AR050496NIAMS NIH HHS R01 AR057049NIAMS NIH HHS R01AR057049NIAMS NIH HHS R01 AR059781NIA NIH HHS R01AG026564NIA NIH HHS R21AG027110
6 · The paper itself

Abstract

backgroundCoalescent simulation is pivotal for understanding population evolutionary models and demographic histories, as well as for developing novel analytical methods for genetic association studies for DNA sequence data. A plethora of coalescent simulators are developed, but selecting the most appropriate program remains challenging.

resultsWe extensively compared performances of five widely used coalescent simulators - Hudson's ms, msHOT, MaCS, Simcoal2, and fastsimcoal, to provide a practical guide considering three crucial factors, 1) speed, 2) scalability and 3) recombination hotspot position and intensity accuracy. Although ms represents a popular standard coalescent simulator, it lacks the ability to simulate sequences with recombination hotspots. An extended program msHOT has compensated for the deficiency of ms by incorporating recombination hotspots and gene conversion events at arbitrarily chosen locations and intensities, but remains limited in simulating long stretches of DNA sequences. Simcoal2, based on a discrete generation-by-generation approach, could simulate more complex demographic scenarios, but runs comparatively slow. MaCS and fastsimcoal, both built on fast, modified sequential Markov coalescent algorithms to approximate standard coalescent, are much more efficient whilst keeping salient features of msHOT and Simcoal2, respectively. Our simulations demonstrate that they are more advantageous over other programs for a spectrum of evolutionary models. To validate recombination hotspots, LDhat 2.2 rhomap package, sequenceLDhot and Haploview were compared for hotspot detection, and sequenceLDhot exhibited the best performance based on both real and simulated data.

conclusionsWhile ms remains an excellent choice for general coalescent simulations of DNA sequences, MaCS and fastsimcoal are much more scalable and flexible in simulating a variety of demographic events under different recombination hotspot models. Furthermore, sequenceLDhot appears to give the most optimal performance in detecting and validating cross-over hotspots.

Indexed as

Models, GeneticAlgorithmsChromosome MappingComputer SimulationDatabases, GeneticEvolution, MolecularGenetics, PopulationGenomeGenomicsHumansLinkage DisequilibriumPolymorphism, Single NucleotideRecombination, GeneticReproducibility of ResultsSequence Analysis, DNA

Identifiers

PMID24387001
PMCPMC3890628

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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.