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
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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