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

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or b... Full description

Journal Title: The American Journal of Human Genetics 05 January 2017, Vol.100(1), pp.75-90
Main Author: Carss, Keren J
Other Authors: 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
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2016.12.003
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recordid: elsevier_sdoi_10_1016_j_ajhg_2016_12_003
title: Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
format: Article
creator:
  • 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
subjects:
  • Retinal Dystrophy
  • Whole-Genome Sequence
  • Copy-Number Variants
  • Rare Sequence Variant
  • Biology
ispartof: The American Journal of Human Genetics, 05 January 2017, Vol.100(1), pp.75-90
description: Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in in two males with choroideremia....
language: eng
source:
identifier: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2016.12.003
fulltext: fulltext
issn:
  • 0002-9297
  • 00029297
  • 1537-6605
  • 15376605
url: Link


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titleComprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
creatorCarss, 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
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subjectRetinal Dystrophy ; Whole-Genome Sequence ; Copy-Number Variants ; Rare Sequence Variant ; Biology
descriptionInherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in in two males with choroideremia....
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titleComprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
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Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in

in two males with choroideremia....

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abstract

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in

in two males with choroideremia....

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