Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Karyn Mégy"'
Autor:
Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100113- (2022)
Summary: To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children, a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric uptake is needed. We developed a bioinformatics pipeline fo
Externí odkaz:
https://doaj.org/article/d0639a514d104d5591320431e35ee69b
Autor:
Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
Abstract Background Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (
Externí odkaz:
https://doaj.org/article/e563cd1c639d49d89247155d92c3c084
Publikováno v:
BMC Medical Genomics, Vol 15, Iss S3, Pp 1-18 (2022)
Abstract Background Polygenic risk scores (PRS) have been widely applied in research studies, showing how population groups can be stratified into risk categories for many common conditions. As healthcare systems consider applying PRS to keep their p
Externí odkaz:
https://doaj.org/article/040d01f15ab1464b95c21adacf9d421f
Autor:
Lore De Kock, Chantal Thys, Kate Downes, Daniel Duarte, Karyn Megy, Chris Van Geet, Kathleen Freson
Publikováno v:
Platelets, Vol 30, Iss 7, Pp 931-934 (2019)
A germline heterozygous gain-of-function p.E527K variant in tyrosine kinase SRC was previously found to cause thrombocytopenia, myelofibrosis, bleeding, bone pathologies, premature edentulism and mild facial dysmorphia in nine patients of a single pe
Externí odkaz:
https://doaj.org/article/a2de273c57d64b8bad292b81fce6411f
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Although best practices have emerged on how to analyse and interpret personal genomes, the utility of whole genome screening remains underdeveloped. A large amount of information can be gathered from various types of analyses via whole genome sequenc
Externí odkaz:
https://doaj.org/article/e659183a6a02476cadfc9df779098f59