Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

10.1038/s41431-019-0412-7

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Main Authors:	Tomar, S, Sethi, R, Lai, PS
Other Authors:	PAEDIATRICS
Format:	Article
Published:	Springer Science and Business Media LLC 2020
Subjects:	Genetic Association Studies Genetic Predisposition to Disease Humans Phenotype ROC Curve Semantics Whole Exome Sequencing
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/173673
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1736732024-04-24T06:13:49Z Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing Tomar, S Sethi, R Lai, PS PAEDIATRICS Genetic Association Studies Genetic Predisposition to Disease Humans Phenotype ROC Curve Semantics Whole Exome Sequencing 10.1038/s41431-019-0412-7 European Journal of Human Genetics 27 9 1389-1397 2020-08-31T08:12:30Z 2020-08-31T08:12:30Z 2019-09-01 2020-07-24T07:28:35Z Article Tomar, S, Sethi, R, Lai, PS (2019-09-01). Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing. European Journal of Human Genetics 27 (9) : 1389-1397. ScholarBank@NUS Repository. https://doi.org/10.1038/s41431-019-0412-7 10184813 14765438 https://scholarbank.nus.edu.sg/handle/10635/173673 Springer Science and Business Media LLC Elements
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	Genetic Association Studies Genetic Predisposition to Disease Humans Phenotype ROC Curve Semantics Whole Exome Sequencing
spellingShingle	Genetic Association Studies Genetic Predisposition to Disease Humans Phenotype ROC Curve Semantics Whole Exome Sequencing Tomar, S Sethi, R Lai, PS Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
description	10.1038/s41431-019-0412-7
author2	PAEDIATRICS
author_facet	PAEDIATRICS Tomar, S Sethi, R Lai, PS
format	Article
author	Tomar, S Sethi, R Lai, PS
author_sort	Tomar, S
title	Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
title_short	Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
title_full	Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
title_fullStr	Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
title_full_unstemmed	Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
title_sort	specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
publisher	Springer Science and Business Media LLC
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/173673
_version_	1800914170708754432

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

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