Imperial College London
Alternate

Claire L. Shovlin PhD FRCP

Faculty of Medicine, National Heart & Lung Institute

Professor of Practice (Clinical and Molecular Medicine)
 
 
 
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Contact

 

c.shovlin Website

 
 
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Location

 

534Block L Hammersmith HospitalHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Clarke:2020:10.1136/jmedgenet-2019-106794,
author = {Clarke, J and Alikian, M and Xiao, S and Kasperaviciute, D and Thomas, E and Turbin, I and Rose, G and Olupona, K and Cifra, E and Curetean, E and Ferguson, T and Redhead, J and Genomics, England Research Consortium and Shovlin, C},
doi = {10.1136/jmedgenet-2019-106794},
journal = {Journal of Medical Genetics},
pages = {859--862},
title = {Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline},
url = {http://dx.doi.org/10.1136/jmedgenet-2019-106794},
volume = {57},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - For rare inherited diseases an important question is what type of clinical diagnostic test to select, for instance Sanger-based single genesequencing; a high read depth gene panel; whole exomesequencingor  whole  genome  sequencing. There  is  emerging recognitionthat  a  transmissible  parental  variant present  at  less  than  expected  heterozygous  frequency  (due  to mosaicism)  may  escape  detection by certain  methods.  This  risk  has  been  proposed  as a factor  infavourof higher  depth  sequencingstrategies.  Here we report a case where barely 30-fold depth whole genome sequencing through the 100,000 Genomes Project identified low grade mosaicismthat had been missed by conventional Sanger sequencing.
AU  - Clarke,J
AU  - Alikian,M
AU  - Xiao,S
AU  - Kasperaviciute,D
AU  - Thomas,E
AU  - Turbin,I
AU  - Rose,G
AU  - Olupona,K
AU  - Cifra,E
AU  - Curetean,E
AU  - Ferguson,T
AU  - Redhead,J
AU  - Genomics,England Research Consortium
AU  - Shovlin,C
DO  - 10.1136/jmedgenet-2019-106794
EP  - 862
PY  - 2020///
SN  - 0022-2593
SP  - 859
TI  - Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline
T2  - Journal of Medical Genetics
UR  - http://dx.doi.org/10.1136/jmedgenet-2019-106794
UR  - http://hdl.handle.net/10044/1/77879
VL  - 57
ER  -
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