Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

Identifying associations of rare variants with disease is challenging due to small effect sizes, technical artefacts and population structure heterogeneity. Here, the authors present RV-EXCALIBER, a method that uses large summary-level exome data to robustly calibrate rare variant burden.

Guardado en:

Detalles Bibliográficos
Autores principales:	Ricky Lali, Michael Chong, Arghavan Omidi, Pedrum Mohammadi-Shemirani, Ann Le, Edward Cui, Guillaume Paré
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a1bacb5072a44cb987a5aa7ca05c17bd
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a1bacb5072a44cb987a5aa7ca05c17bd
record_format	dspace
spelling	oai:doaj.org-article:a1bacb5072a44cb987a5aa7ca05c17bd2021-12-02T18:37:28ZCalibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories10.1038/s41467-021-26114-02041-1723https://doaj.org/article/a1bacb5072a44cb987a5aa7ca05c17bd2021-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-26114-0https://doaj.org/toc/2041-1723Identifying associations of rare variants with disease is challenging due to small effect sizes, technical artefacts and population structure heterogeneity. Here, the authors present RV-EXCALIBER, a method that uses large summary-level exome data to robustly calibrate rare variant burden.Ricky LaliMichael ChongArghavan OmidiPedrum Mohammadi-ShemiraniAnn LeEdward CuiGuillaume ParéNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Ricky Lali Michael Chong Arghavan Omidi Pedrum Mohammadi-Shemirani Ann Le Edward Cui Guillaume Paré Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
description	Identifying associations of rare variants with disease is challenging due to small effect sizes, technical artefacts and population structure heterogeneity. Here, the authors present RV-EXCALIBER, a method that uses large summary-level exome data to robustly calibrate rare variant burden.
format	article
author	Ricky Lali Michael Chong Arghavan Omidi Pedrum Mohammadi-Shemirani Ann Le Edward Cui Guillaume Paré
author_facet	Ricky Lali Michael Chong Arghavan Omidi Pedrum Mohammadi-Shemirani Ann Le Edward Cui Guillaume Paré
author_sort	Ricky Lali
title	Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
title_short	Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
title_full	Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
title_fullStr	Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
title_full_unstemmed	Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
title_sort	calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a1bacb5072a44cb987a5aa7ca05c17bd
work_keys_str_mv	AT rickylali calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories AT michaelchong calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories AT arghavanomidi calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories AT pedrummohammadishemirani calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories AT annle calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories AT edwardcui calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories AT guillaumepare calibratedrarevariantgeneticriskscoresforcomplexdiseasepredictionusinglargeexomesequencerepositories
_version_	1718377817098420224

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

Ejemplares similares