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Keyword

fine mapping

Description: A set of genetic methods for narrowing a genomic region associated with a trait to identify likely causal variants.
Wikidata ID: wiki/Q140419439
OpenAlex ID: keywords/fine-mapping
FinnGen provides genetic insights from a well-phenotyped isolated population
2023 · Mitja I. Kurki, Juha Karjalainen, et al. · Nature · 4,184
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
2022 · Vassily Trubetskoy, Antonio F. Pardiñas, et al. · Nature · 2,931
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MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
2010 · Yun Li, Cristen J. Willer, et al. · Genetic Epidemiology · 1,838
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
2007 · Kai Wang, Mingyao Li, et al. · Genome Research · 1,789
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
2018 · Anubha Mahajan, Daniel Taliun, et al. · Nature Genetics · 1,742
Genotype imputation for genome-wide association studies
2010 · Jonathan Marchini, Bryan Howie · Nature Reviews Genetics · 1,630
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
2018 · Antonio F. Pardiñas, Peter Holmans, et al. · Nature Genetics · 1,549
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
2013 · Ashley H Beecham, Athena Hadjixenofontos, et al. · Nature Genetics · 1,405
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SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
2008 · Andrew D. Johnson, Robert E. Handsaker, et al. · Bioinformatics · 1,330
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Effective gene expression prediction from sequence by integrating long-range interactions
2021 · Žiga Avsec, Vikram Agarwal, et al. · Nature Methods · 1,325
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A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep
2006 · Alex Clop, Fabienne Marcq, et al. · Nature Genetics · 1,257
A Common MUC5B Promoter Polymorphism and Pulmonary Fibrosis
2011 · Max A. Seibold, Anastasia L. Wise, et al. · New England Journal of Medicine · 1,198
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Haplotype tagging for the identification of common disease genes
2001 · Gillian C.L. Johnson, Laura Esposito, et al. · Nature Genetics · 1,173
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
2007 · Jan O. Korbel, Alexander Eckehart Urban, et al. · Science · 1,163
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease
2017 · Pim van der Harst, Niek Verweij · Circulation Research · 1,138
A General Test of Association for Quantitative Traits in Nuclear Families
2000 · G.R. Abecasis, L.R. Cardon, et al. · The American Journal of Human Genetics · 1,126
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An introgression line population of Lycopersicon pennellii in the cultivated tomato enables the identification and fine mapping of yield-associated QTL.
1995 · Y Eshed, D Zamir · Genetics · 1,099
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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
2014 · Anubha Mahajan, Min Jin Go, et al. · Nature Genetics · 1,031
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Genetic analyses of diverse populations improves discovery for complex traits
2019 · Genevieve L. Wojcik, Mariaelisa Graff, et al. · Nature · 1,027
The power of genetic diversity in genome-wide association studies of lipids
2021 · Sarah E. Graham, Shoa L. Clarke, et al. · Nature · 968
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Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
2012 · Soumya Raychaudhuri, Cynthia Sandor, et al. · Nature Genetics · 947
The MRC IEU OpenGWAS data infrastructure
2020 · Ben Elsworth, Matthew Lyon, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 932
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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
2018 · The Profile Study, Fredrick R. Schumacher, et al. · Nature Genetics · 895
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From genome-wide associations to candidate causal variants by statistical fine-mapping
2018 · Daniel J. Schaid, Wenan Chen, et al. · Nature Reviews Genetics · 886
A catalog of genetic loci associated with kidney function from analyses of a million individuals
2019 · Lifelines Cohort Study, Matthias Wuttke, et al. · Nature Genetics · 847
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Works count: 9,481
Citation count: 262,000
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