Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data

UKIRDC

doi:10.1093/bioinformatics/btx147

Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data

UKIRDC

Research output: Contribution to journal › Article › peer-review

39 Scopus citations

Abstract

Summary: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.

Original language	English
Pages (from-to)	2421-2423
Number of pages	3
Journal	Bioinformatics
Volume	33
Issue number	15
DOIs	https://doi.org/10.1093/bioinformatics/btx147
State	Published - 1 Aug 2017
Externally published	Yes

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10.1093/bioinformatics/btx147

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title = "Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data",

abstract = "Summary: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.",

author = "UKIRDC and Nikolas Pontikos and Jing Yu and Ismail Moghul and Lucy Withington and Fiona Blanco-Kelly and Tom Vulliamy and Wong, \{Tsz Lun Ernest\} and Cian Murphy and Valentina Cipriani and Alessia Fiorentino and Gavin Arno and Daniel Greene and Jacobsen, \{Julius O.B.\} and Tristan Clark and Gregory, \{David S.\} and Nemeth, \{Andrea M.\} and Stephanie Halford and Inglehearn, \{Chris F.\} and Susan Downes and Black, \{Graeme C.\} and Webster, \{Andrew R.\} and Hardcastle, \{Alison J.\} and Vincent Plagnol and Georgina Hall and Stuart Ingram and Rachel Gillespie and Forbes Manson and Panagiotis Sergouniotis and Carmel Toomes and Manir Ali and Martin McKibbin and James Poulter and Kamron Khan and Emma Lord and Stefano Lise and Michel Michaelides and Cheetham, \{Michael E.\} and \{Van Heyningen\}, Veronica",

year = "2017",

month = aug,

day = "1",

doi = "10.1093/bioinformatics/btx147",

language = "English",

volume = "33",

pages = "2421--2423",

journal = "Bioinformatics",

issn = "1367-4803",

publisher = "Oxford University Press",

number = "15",

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TY - JOUR

T1 - Phenopolis

T2 - An open platform for harmonization and analysis of genetic and phenotypic data

AU - UKIRDC

AU - Pontikos, Nikolas

AU - Yu, Jing

AU - Moghul, Ismail

AU - Withington, Lucy

AU - Blanco-Kelly, Fiona

AU - Vulliamy, Tom

AU - Wong, Tsz Lun Ernest

AU - Murphy, Cian

AU - Cipriani, Valentina

AU - Fiorentino, Alessia

AU - Arno, Gavin

AU - Greene, Daniel

AU - Jacobsen, Julius O.B.

AU - Clark, Tristan

AU - Gregory, David S.

AU - Nemeth, Andrea M.

AU - Halford, Stephanie

AU - Inglehearn, Chris F.

AU - Downes, Susan

AU - Black, Graeme C.

AU - Webster, Andrew R.

AU - Hardcastle, Alison J.

AU - Plagnol, Vincent

AU - Hall, Georgina

AU - Ingram, Stuart

AU - Gillespie, Rachel

AU - Manson, Forbes

AU - Sergouniotis, Panagiotis

AU - Toomes, Carmel

AU - Ali, Manir

AU - McKibbin, Martin

AU - Poulter, James

AU - Khan, Kamron

AU - Lord, Emma

AU - Lise, Stefano

AU - Michaelides, Michel

AU - Cheetham, Michael E.

AU - Van Heyningen, Veronica

PY - 2017/8/1

Y1 - 2017/8/1

N2 - Summary: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.

AB - Summary: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.

UR - https://www.scopus.com/pages/publications/85026411751

U2 - 10.1093/bioinformatics/btx147

DO - 10.1093/bioinformatics/btx147

M3 - Article

C2 - 28334266

AN - SCOPUS:85026411751

SN - 1367-4803

VL - 33

SP - 2421

EP - 2423

JO - Bioinformatics

JF - Bioinformatics

IS - 15

ER -

Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data

Abstract

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