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

Nikolas Pontikos; Jing Yu; Ismail Moghul; Lucy Withington; Fiona Blanco-Kelly; Tom Vulliamy; Tsz Lun Ernest Wong; Cian Murphy; Valentina Cipriani; Alessia Fiorentino; Gavin Arno; Daniel Greene; Julius O B Jacobsen; Tristan Clark; David S. Gregory; Andrea M. Nemeth; Stephanie Halford; Chris F Inglehearn; Susan Downes; Graeme C. Black; Andrew R Webster; Alison J Hardcastle; Vincent Plagnol; Manir Ali; Martin McKibbin; James A. Poulter; Kamron Khan; Emma Lord; Stefano Lise; Michel Michaelides; Michael E. Cheetham; Veronica Van Heyningen; UKIRDC

doi:10.1093/bioinformatics/btx147

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

Nikolas Pontikos^*, Jing Yu, Ismail Moghul, Lucy Withington, Fiona Blanco-Kelly, Tom Vulliamy, Tsz Lun Ernest Wong, Cian Murphy, Valentina Cipriani, Alessia Fiorentino, Gavin Arno, Daniel Greene, Julius O B Jacobsen, Tristan Clark, David S. Gregory, Andrea M. Nemeth, Stephanie Halford, Chris F Inglehearn, Susan Downes, Graeme C. BlackAndrew R Webster, Alison J Hardcastle, Vincent Plagnol, Manir Ali, Martin McKibbin, James A. Poulter, Kamron Khan, Emma Lord, Stefano Lise, Michel Michaelides, Michael E. Cheetham, Veronica Van Heyningen, UKIRDC

^*Corresponding author for this work

Division of Evolution, Infection and Genomics

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

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
Early online date	15 Mar 2017
DOIs	https://doi.org/10.1093/bioinformatics/btx147
Publication status	Published - 1 Aug 2017

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Pontikos, N., Yu, J., Moghul, I., Withington, L., Blanco-Kelly, F., Vulliamy, T., Wong, T. L. E., Murphy, C., Cipriani, V., Fiorentino, A., Arno, G., Greene, D., Jacobsen, J. O. B., Clark, T., Gregory, D. S., Nemeth, A. M., Halford, S., Inglehearn, C. F., Downes, S., ... UKIRDC (2017). Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics, 33(15), 2421-2423. https://doi.org/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 = "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 Manir Ali and Martin McKibbin and Poulter, {James A.} and Kamron Khan and Emma Lord and Stefano Lise and Michel Michaelides and Cheetham, {Michael E.} and {Van Heyningen}, Veronica and UKIRDC",

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doi = "10.1093/bioinformatics/btx147",

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Pontikos, N, Yu, J, Moghul, I, Withington, L, Blanco-Kelly, F, Vulliamy, T, Wong, TLE, Murphy, C, Cipriani, V, Fiorentino, A, Arno, G, Greene, D, Jacobsen, JOB, Clark, T, Gregory, DS, Nemeth, AM, Halford, S, Inglehearn, CF, Downes, S, Black, GC, Webster, AR, Hardcastle, AJ, Plagnol, V, Ali, M, McKibbin, M, Poulter, JA, Khan, K, Lord, E, Lise, S, Michaelides, M, Cheetham, ME, Van Heyningen, V & UKIRDC 2017, 'Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data', Bioinformatics, vol. 33, no. 15, pp. 2421-2423. https://doi.org/10.1093/bioinformatics/btx147

TY - JOUR

T1 - Phenopolis

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

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 - Ali, Manir

AU - McKibbin, Martin

AU - Poulter, James A.

AU - Khan, Kamron

AU - Lord, Emma

AU - Lise, Stefano

AU - Michaelides, Michel

AU - Cheetham, Michael E.

AU - Van Heyningen, Veronica

AU - UKIRDC

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.

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U2 - 10.1093/bioinformatics/btx147

DO - 10.1093/bioinformatics/btx147

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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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