Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren J. Carss; Gavin Arno; Marie Erwood; Jonathan Stephens; Alba Sanchis-Juan; Sarah Hull; Karyn Megy; Detelina Grozeva; Eleanor Dewhurst; Samantha Malka; Vincent Plagnol; Christopher Penkett; Kathleen Stirrups; Roberta Rizzo; Genevieve Wright; Dragana Josifova; Maria Bitner-Glindzicz; Richard H. Scott; Emma Clement; Louise Allen; Ruth Armstrong; Angela F. Brady; Jenny Carmichael; Manali Chitre; Robert H. H. Henderson; Jane Hurst; Robert E. MacLaren; Elaine Murphy; Joan Paterson; Elisabeth Rosser; Dorothy A. Thompson; Emma Wakeling; Willem H. Ouwehand; Michel Michaelides; Anthony T. Moore; Andrew R. Webster; NIHR-BioResource Rare Dis; Yvonne Henskens; Johan Heemskerk; F. Lucy Raymond

doi:10.1016/j.ajhg.2016.12.003

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren J. Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner-Glindzicz, Richard H. Scott, Emma Clement, Louise AllenRuth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert H. H. Henderson, Jane Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A. Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, NIHR-BioResource Rare Dis, Yvonne Henskens, Johan Heemskerk, F. Lucy Raymond^*

^*Corresponding author for this work

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

199 Citations (Web of Science)

Original language	English
Pages (from-to)	75-90
Number of pages	16
Journal	American Journal of Human Genetics
Volume	100
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2016.12.003
Publication status	Published - 5 Jan 2017

Keywords

LEBER CONGENITAL AMAUROSIS
STARGARDT DISEASE
EXOME
DYSTROPHY
MUTATION
GENE
DIAGNOSIS
REVEALS
PROTEIN
ACTIVATION

Access to Document

10.1016/j.ajhg.2016.12.003

Cite this

Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., Megy, K., Grozeva, D., Dewhurst, E., Malka, S., Plagnol, V., Penkett, C., Stirrups, K., Rizzo, R., Wright, G., Josifova, D., Bitner-Glindzicz, M., Scott, R. H., Clement, E., ... Raymond, F. L. (2017). Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100(1), 75-90. https://doi.org/10.1016/j.ajhg.2016.12.003

Carss, Keren J. ; Arno, Gavin ; Erwood, Marie ; Stephens, Jonathan ; Sanchis-Juan, Alba ; Hull, Sarah ; Megy, Karyn ; Grozeva, Detelina ; Dewhurst, Eleanor ; Malka, Samantha ; Plagnol, Vincent ; Penkett, Christopher ; Stirrups, Kathleen ; Rizzo, Roberta ; Wright, Genevieve ; Josifova, Dragana ; Bitner-Glindzicz, Maria ; Scott, Richard H. ; Clement, Emma ; Allen, Louise ; Armstrong, Ruth ; Brady, Angela F. ; Carmichael, Jenny ; Chitre, Manali ; Henderson, Robert H. H. ; Hurst, Jane ; MacLaren, Robert E. ; Murphy, Elaine ; Paterson, Joan ; Rosser, Elisabeth ; Thompson, Dorothy A. ; Wakeling, Emma ; Ouwehand, Willem H. ; Michaelides, Michel ; Moore, Anthony T. ; Webster, Andrew R. ; NIHR-BioResource Rare Dis ; Henskens, Yvonne ; Heemskerk, Johan ; Raymond, F. Lucy. / Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. In: American Journal of Human Genetics. 2017 ; Vol. 100, No. 1. pp. 75-90.

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title = "Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease",

keywords = "LEBER CONGENITAL AMAUROSIS, STARGARDT DISEASE, EXOME, DYSTROPHY, MUTATION, GENE, DIAGNOSIS, REVEALS, PROTEIN, ACTIVATION",

author = "Carss, {Keren J.} and Gavin Arno and Marie Erwood and Jonathan Stephens and Alba Sanchis-Juan and Sarah Hull and Karyn Megy and Detelina Grozeva and Eleanor Dewhurst and Samantha Malka and Vincent Plagnol and Christopher Penkett and Kathleen Stirrups and Roberta Rizzo and Genevieve Wright and Dragana Josifova and Maria Bitner-Glindzicz and Scott, {Richard H.} and Emma Clement and Louise Allen and Ruth Armstrong and Brady, {Angela F.} and Jenny Carmichael and Manali Chitre and Henderson, {Robert H. H.} and Jane Hurst and MacLaren, {Robert E.} and Elaine Murphy and Joan Paterson and Elisabeth Rosser and Thompson, {Dorothy A.} and Emma Wakeling and Ouwehand, {Willem H.} and Michel Michaelides and Moore, {Anthony T.} and Webster, {Andrew R.} and {NIHR-BioResource Rare Dis} and Yvonne Henskens and Johan Heemskerk and Raymond, {F. Lucy}",

year = "2017",

month = jan,

day = "5",

doi = "10.1016/j.ajhg.2016.12.003",

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pages = "75--90",

journal = "American Journal of Human Genetics",

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Carss, KJ, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, RH, Clement, E, Allen, L, Armstrong, R, Brady, AF, Carmichael, J, Chitre, M, Henderson, RHH, Hurst, J, MacLaren, RE, Murphy, E, Paterson, J, Rosser, E, Thompson, DA, Wakeling, E, Ouwehand, WH, Michaelides, M, Moore, AT, Webster, AR, NIHR-BioResource Rare Dis, Henskens, Y, Heemskerk, J & Raymond, FL 2017, 'Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease', American Journal of Human Genetics, vol. 100, no. 1, pp. 75-90. https://doi.org/10.1016/j.ajhg.2016.12.003

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. / Carss, Keren J.; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H.; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F.; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H. H.; Hurst, Jane; MacLaren, Robert E.; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A.; Wakeling, Emma; Ouwehand, Willem H.; Michaelides, Michel; Moore, Anthony T.; Webster, Andrew R.; NIHR-BioResource Rare Dis ; Henskens, Yvonne; Heemskerk, Johan; Raymond, F. Lucy.

In: American Journal of Human Genetics, Vol. 100, No. 1, 05.01.2017, p. 75-90.

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

TY - JOUR

T1 - Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

AU - Carss, Keren J.

AU - Arno, Gavin

AU - Erwood, Marie

AU - Stephens, Jonathan

AU - Sanchis-Juan, Alba

AU - Hull, Sarah

AU - Megy, Karyn

AU - Grozeva, Detelina

AU - Dewhurst, Eleanor

AU - Malka, Samantha

AU - Plagnol, Vincent

AU - Penkett, Christopher

AU - Stirrups, Kathleen

AU - Rizzo, Roberta

AU - Wright, Genevieve

AU - Josifova, Dragana

AU - Bitner-Glindzicz, Maria

AU - Scott, Richard H.

AU - Clement, Emma

AU - Allen, Louise

AU - Armstrong, Ruth

AU - Brady, Angela F.

AU - Carmichael, Jenny

AU - Chitre, Manali

AU - Henderson, Robert H. H.

AU - Hurst, Jane

AU - MacLaren, Robert E.

AU - Murphy, Elaine

AU - Paterson, Joan

AU - Rosser, Elisabeth

AU - Thompson, Dorothy A.

AU - Wakeling, Emma

AU - Ouwehand, Willem H.

AU - Michaelides, Michel

AU - Moore, Anthony T.

AU - Webster, Andrew R.

AU - NIHR-BioResource Rare Dis

AU - Henskens, Yvonne

AU - Heemskerk, Johan

AU - Raymond, F. Lucy

PY - 2017/1/5

Y1 - 2017/1/5

KW - LEBER CONGENITAL AMAUROSIS

KW - STARGARDT DISEASE

KW - EXOME

KW - DYSTROPHY

KW - MUTATION

KW - GENE

KW - DIAGNOSIS

KW - REVEALS

KW - PROTEIN

KW - ACTIVATION

U2 - 10.1016/j.ajhg.2016.12.003

DO - 10.1016/j.ajhg.2016.12.003

M3 - Article

VL - 100

SP - 75

EP - 90

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -