5
IRUS Total
Downloads

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline

File Description SizeFormat 
859.full.pdfPublished version569.37 kBAdobe PDFView/Open
Title: Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline
Authors: Clarke, J
Alikian, M
Xiao, S
Kasperaviciute, D
Thomas, E
Turbin, I
Rose, G
Olupona, K
Cifra, E
Curetean, E
Ferguson, T
Redhead, J
Genomics England Research Consortium
Shovlin, C
Item Type: Journal Article
Abstract: 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.
Issue Date: 1-Nov-2020
Date of Acceptance: 10-Feb-2020
URI: http://hdl.handle.net/10044/1/77879
DOI: 10.1136/jmedgenet-2019-106794
ISSN: 0022-2593
Publisher: BMJ Publishing Group
Start Page: 859
End Page: 862
Journal / Book Title: Journal of Medical Genetics
Volume: 57
Copyright Statement: © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
Keywords: molecular genetics
Genomics England Research Consortium
Genetics & Heredity
06 Biological Sciences
11 Medical and Health Sciences
Publication Status: Published
Online Publication Date: 2020-04-17
Appears in Collections:National Heart and Lung Institute
Faculty of Medicine



This item is licensed under a Creative Commons License Creative Commons