Evidence map›Paper›PMID 20439770›Full record

ArticleGenetics2010

Fine mapping in 94 inbred mouse strains using a high-density haplotype resource.

Andrew Kirby, Hyun Min Kang, Claire M Wade, Chris Cotsapas, Emrah Kostem, Buhm Han, Nick Furlotte, Eun Yong Kang, Manuel Rivas, Molly A Bogue and 6 more

Abstract read
In one paragraph

Article in Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
80citing papers in PubMed, 3 pooled it
–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

80 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysis.Journal of the Association for Research in Otolaryngology : JARO · 2014
    Pooled it
  3. Pooled it
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  14. Identification of Basp1 as a novel angiogenesis-regulating gene by multi-model system studies.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021
    Article
  15. Genetic determinants of ammonia-induced acute lung injury in mice.American journal of physiology. Lung cellular and molecular physiology · 2021
    Article
  16. Article
  17. Article
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  19. Identification ofJournal of the American Society of Nephrology : JASN · 2019
    Article
  20. Article

20 more citing papers are in PubMed but not listed here.

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

16 authors.

Andrew KirbyCenter for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Hyun Min Kang
Claire M Wade
Chris Cotsapas
Emrah Kostem
Buhm Han
Nick Furlotte
Eun Yong Kang
Manuel Rivas
Molly A Bogue
Kelly A Frazer
Frank M Johnson
Erica J Beilharz
David R Cox
Eleazar Eskin
Mark J Daly

Funding

Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI ANDREW D LUSTER · 1991 to 2026
$35.3M
Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
Mouse Phenome ProjectR01DA028420 · NIDA · JACKSON LABORATORY · PI Elissa J Chesler · 2010 to 2026
$9.5M
Training Grant in Genomic Analysis and InterpretationT32HG002536 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Valerie A Arboleda, Harold Pimentel · 2002 to 2026
$8.6M
Phenome ProjectR01MH071984 · NIMH · JACKSON LABORATORY · PI BOGUE, MOLLY A · 2005 to 2009
$1.6M
Discovering the Genetic Basis of HypertensionK25HL080079 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ESKIN, ELEAZAR · 2006 to 2010
$685k
NHGRI NIH HHS HG00521401NHGRI NIH HHS P41-HG003056NHGRI NIH HHS T32 HG002536NHLBI NIH HHS K25 HL080079NHLBI NIH HHS K25-HL080079NIDA NIH HHS DA028420NIDA NIH HHS R01 DA028420NIDA NIH HHS U01 DA024417NIDA NIH HHS U01-DA024417NIDDK NIH HHS P30 DK043351NIEHS NIH HHS N01 ES045530NIH HHS NH084698NIMH NIH HHS MH071984NIMH NIH HHS R01 MH071984
6 · The paper itself

Abstract

The genetics of phenotypic variation in inbred mice has for nearly a century provided a primary weapon in the medical research arsenal. A catalog of the genetic variation among inbred mouse strains, however, is required to enable powerful positional cloning and association techniques. A recent whole-genome resequencing study of 15 inbred mouse strains captured a significant fraction of the genetic variation among a limited number of strains, yet the common use of hundreds of inbred strains in medical research motivates the need for a high-density variation map of a larger set of strains. Here we report a dense set of genotypes from 94 inbred mouse strains containing 10.77 million genotypes over 121,433 single nucleotide polymorphisms (SNPs), dispersed at 20-kb intervals on average across the genome, with an average concordance of 99.94% with previous SNP sets. Through pairwise comparisons of the strains, we identified an average of 4.70 distinct segments over 73 classical inbred strains in each region of the genome, suggesting limited genetic diversity between the strains. Combining these data with genotypes of 7570 gap-filling SNPs, we further imputed the untyped or missing genotypes of 94 strains over 8.27 million Perlegen SNPs. The imputation accuracy among classical inbred strains is estimated at 99.7% for the genotypes imputed with high confidence. We demonstrated the utility of these data in high-resolution linkage mapping through power simulations and statistical power analysis and provide guidelines for developing such studies. We also provide a resource of in silico association mapping between the complex traits deposited in the Mouse Phenome Database with our genotypes. We expect that these resources will facilitate effective designs of both human and mouse studies for dissecting the genetic basis of complex traits.

Indexed as

Chromosome MappingDatabases, Nucleic AcidAnimalsGenomeGenotypeHaplotypesHumansLinkage DisequilibriumMiceMice, Inbred StrainsModels, GeneticPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID20439770
PMCPMC2907194

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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.