Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Laura W. Harris"'
Autor:
Ruidong Xiang, Martin Kelemen, Yu Xu, Laura W. Harris, Helen Parkinson, Michael Inouye, Samuel A. Lambert
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-14 (2024)
Abstract Polygenic scores (PGS) can be used for risk stratification by quantifying individuals’ genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review the latest potential benefits
Externí odkaz:
https://doaj.org/article/afd2a65ad1024f02a94ecb4905c69f5e
Autor:
Jacqueline A.L. MacArthur, Annalisa Buniello, Laura W. Harris, James Hayhurst, Aoife McMahon, Elliot Sollis, Maria Cerezo, Peggy Hall, Elizabeth Lewis, Patricia L. Whetzel, Orli G. Bahcall, Inês Barroso, Robert J. Carroll, Michael Inouye, Teri A. Manolio, Stephen S. Rich, Lucia A. Hindorff, Ken Wiley, Helen Parkinson
Publikováno v:
Cell Genomics, Vol 1, Iss 1, Pp 100004- (2021)
Summary: Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resol
Externí odkaz:
https://doaj.org/article/0dd1d0e208564f39b6fce0f8680c71c1
Autor:
Aoife McMahon, Elizabeth Lewis, Annalisa Buniello, Maria Cerezo, Peggy Hall, Elliot Sollis, Helen Parkinson, Lucia A. Hindorff, Laura W. Harris, Jacqueline A.L. MacArthur
Publikováno v:
Cell Genomics, Vol 1, Iss 1, Pp 100005- (2021)
Summary: Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants. To survey current s
Externí odkaz:
https://doaj.org/article/3adcd0fc3e984f08927291aab2224c55
Autor:
Joannella Morales, Danielle Welter, Emily H. Bowler, Maria Cerezo, Laura W. Harris, Aoife C. McMahon, Peggy Hall, Heather A. Junkins, Annalisa Milano, Emma Hastings, Cinzia Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, Fiona Cunningham, Lucia A. Hindorff, Jacqueline A. L. MacArthur
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the repr
Externí odkaz:
https://doaj.org/article/b53a242795714ed48bb6d40e8fcf0f44
Autor:
Ray Stefancsik, James P. Balhoff, Meghan A. Balk, Robyn Ball, Susan M. Bello, Anita R. Caron, Elissa Chessler, Vinicius de Souza, Sarah Gehrke, Melissa Haendel, Laura W. Harris, Nomi L. Harris, Arwa Ibrahim, Sebastian Koehler, Nicolas Matentzoglu, Julie A. McMurry, Christopher J. Mungall, Monica C. Munoz-Torres, Tim Putman, Peter Robinson, Damian Smedley, Elliot Sollis, Anne E Thessen, Nicole Vasilevsky, David O. Walton, David Osumi-Sutherland
Publikováno v:
bioRxiv
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f3ba90afc362ce02ed181cd277391e8
https://doi.org/10.1101/2023.01.26.525742
https://doi.org/10.1101/2023.01.26.525742
Autor:
Elliot Sollis, Abayomi Mosaku, Ala Abid, Annalisa Buniello, Maria Cerezo, Laurent Gil, Tudor Groza, Osman Güneş, Peggy Hall, James Hayhurst, Arwa Ibrahim, Yue Ji, Sajo John, Elizabeth Lewis, Jacqueline A L MacArthur, Aoife McMahon, David Osumi-Sutherland, Kalliope Panoutsopoulou, Zoë Pendlington, Santhi Ramachandran, Ray Stefancsik, Jonathan Stewart, Patricia Whetzel, Robert Wilson, Lucia Hindorff, Fiona Cunningham, Samuel A Lambert, Michael Inouye, Helen Parkinson, Laura W Harris
Publikováno v:
Nucleic acids research.
The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industr
Autor:
Aoife McMahon, Peggy Hall, Michael Inouye, Elliot Sollis, James D. Hayhurst, Stephen S. Rich, Maria Cerezo, Annalisa Buniello, Laura W. Harris, Inês Barroso, Helen Parkinson, Elizabeth Lewis, Ken Wiley, Teri A. Manolio, Lucia A. Hindorff, Robert J. Carroll, Patricia L. Whetzel, Jacqueline A. L. MacArthur, Orli G. Bahcall
Publikováno v:
Cell genomics. 1(1)
Summary Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resolv
Autor:
Richard L.M. Faull, Jacqueline A. Sluijs, Lasse Brandt, Josef Priller, Francisco Fernández-Klett, Maurice A. Curtis, Jinte Middeldorp, Elly M. Hol, Laura W. Harris, Sabine Bahn, Basim Abuelnor, Camila Fernández-Zapata
Publikováno v:
Brain Pathology
Brain pathology 30(6), 1071-1086 (2020). doi:10.1111/bpa.12897
Brain pathology 30(6), 1071-1086 (2020). doi:10.1111/bpa.12897
Pericytes are vascular mural cells that surround capillaries of the central nervous system (CNS). They are crucial for brain development and contribute to CNS homeostasis by regulating blood–brain barrier function and cerebral blood flow. It has be
Autor:
Heather Junkins, Paul Flicek, Joannella Morales, Peggy Hall, Harpreet Singh Riat, Elliot Sollis, Aoife McMahon, Stephen J. Trevanion, Laura W. Harris, Patricia L. Whetzel, James D. Hayhurst, Jacqueline A. L. MacArthur, M. Ridwan Amode, Fiona Cunningham, Annalisa Buniello, Daniel Suveges, Tony Burdett, Helen Parkinson, Olga Vrousgou, Jose A. Guillen, Cinzia Malangone, Lucia A. Hindorff, Edward Mountjoy, Maria Cerezo
Publikováno v:
Nucleic Acids Research
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of t
Autor:
Heather Junkins, Helen Parkinson, Annalisa Milano, Emma Hastings, Aoife McMahon, Tony Burdett, Joannella Morales, Emily H. Bowler, Danielle Welter, Fiona Cunningham, Laura W. Harris, Cinzia Malangone, Lucia A. Hindorff, Peggy Hall, Paul Flicek, Jacqueline A. L. MacArthur, Maria Cerezo, Annalisa Buniello
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-10 (2018)
Genome Biology
Genome Biology
BackgroundThe accurate description of ancestry is essential to interpret and integrate human genomics data, and to ensure that advances in the field of genomics benefit individuals from all ancestral backgrounds. However, there are no established gui