Literature DB >> 28968746

LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation.

Mitchell J Machiela, Stephen J Chanock.   

Abstract

Motivation: Existing approaches to plot association results from genome-wide association studies (GWAS) are in the form of static Manhattan plots and often lack data integration with rich databases on variant regulatory potential as well as population-specific linkage disequilibrium patterns. Summary: We created an intuitive web module for uploading and efficiently exploring GWAS association results. Interactive plots and sortable tables allow researchers to query genomic regions of interest, facilitating the integration of data on linkage disequilibrium, variant regulatory potential and potential target genes. External links allow for visualization of association results in the UCSC genome browser as well as easy access to publically available databases (e.g. dbSNP and RegulomeDB). Through improved visualization and data integration, LDassoc offers genomic researchers a specialized environment to examine association signals and suggests variants for functional investigation. Availability and implementation: LDassoc is a free and publically available web tool which can be accessed online at https://analysistools.nci.nih.gov/LDlink/? tab=ldassoc. Contact: mitchell.machiela@nih.gov. Published by Oxford University Press 2017. This work is written by US Government employees and are in the public domain in the US.

Mesh:

Year:  2018        PMID: 28968746      PMCID: PMC6030966          DOI: 10.1093/bioinformatics/btx561

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  6 in total

1.  LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants.

Authors:  Mitchell J Machiela; Stephen J Chanock
Journal:  Bioinformatics       Date:  2015-07-02       Impact factor: 6.937

2.  LocusZoom: regional visualization of genome-wide association scan results.

Authors:  Randall J Pruim; Ryan P Welch; Serena Sanna; Tanya M Teslovich; Peter S Chines; Terry P Gliedt; Michael Boehnke; Gonçalo R Abecasis; Cristen J Willer
Journal:  Bioinformatics       Date:  2010-07-15       Impact factor: 6.937

3.  Annotation of functional variation in personal genomes using RegulomeDB.

Authors:  Alan P Boyle; Eurie L Hong; Manoj Hariharan; Yong Cheng; Marc A Schaub; Maya Kasowski; Konrad J Karczewski; Julie Park; Benjamin C Hitz; Shuai Weng; J Michael Cherry; Michael Snyder
Journal:  Genome Res       Date:  2012-09       Impact factor: 9.043

4.  LocusTrack: Integrated visualization of GWAS results and genomic annotation.

Authors:  Gabriel Cuellar-Partida; Miguel E Renteria; Stuart MacGregor
Journal:  Source Code Biol Med       Date:  2015-02-03

5.  The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).

Authors:  Jacqueline MacArthur; Emily Bowler; Maria Cerezo; Laurent Gil; Peggy Hall; Emma Hastings; Heather Junkins; Aoife McMahon; Annalisa Milano; Joannella Morales; Zoe May Pendlington; Danielle Welter; Tony Burdett; Lucia Hindorff; Paul Flicek; Fiona Cunningham; Helen Parkinson
Journal:  Nucleic Acids Res       Date:  2016-11-29       Impact factor: 16.971

6.  LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations.

Authors:  Tokhir Dadaev; Daniel A Leongamornlert; Edward J Saunders; Rosalind Eeles; Zsofia Kote-Jarai
Journal:  Bioinformatics       Date:  2015-11-20       Impact factor: 6.937

  6 in total
  41 in total

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Journal:  J Biol Chem       Date:  2020-05-01       Impact factor: 5.157

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Authors:  J W Frew; J E Hawkes; M Sullivan-Whalen; P Gilleaudeau; J G Krueger
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Authors:  L Mentlein; G E Thorlacius; L Meneghel; L A Aqrawi; J I Ramírez Sepúlveda; J Grunewald; A Espinosa; M Wahren-Herlenius
Journal:  Clin Exp Immunol       Date:  2018-05-16       Impact factor: 4.330

5.  Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Authors:  Osatohanmwen J Enogieru; Peter M U Ung; Sook Wah Yee; Avner Schlessinger; Kathleen M Giacomini
Journal:  Hum Mutat       Date:  2019-04-25       Impact factor: 4.878

6.  Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank.

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Journal:  Eur J Hum Genet       Date:  2022-05-02       Impact factor: 4.246

7.  Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus.

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Journal:  Hum Mol Genet       Date:  2019-03-15       Impact factor: 6.150

8.  Circulating Glutamine and Alzheimer's Disease: A Mendelian Randomization Study.

Authors:  Charleen D Adams
Journal:  Clin Interv Aging       Date:  2020-02-10       Impact factor: 4.458

9.  Genetic Contributions to Multivariate Data-Driven Brain Networks Constructed via Source-Based Morphometry.

Authors:  Amanda L Rodrigue; Aaron F Alexander-Bloch; Emma E M Knowles; Samuel R Mathias; Josephine Mollon; Marinka M G Koenis; Nora I Perrone-Bizzozero; Laura Almasy; Jessica A Turner; Vince D Calhoun; David C Glahn
Journal:  Cereb Cortex       Date:  2020-07-30       Impact factor: 5.357

10.  Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank.

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Journal:  Hum Mol Genet       Date:  2021-07-09       Impact factor: 6.150

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