Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of pro...
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
About this item
Full title
Author / Creator
Molina-Ramírez, Leslie Patricia , Kyle, Claire , Ellingford, Jamie M , Wright, Ronnie , Taylor, Algy , Bhaskar, Sanjeev S , Campbell, Christopher , Jackson, Harriet , Fairclough, Adele , Rousseau, Abigail , Burghel, George J , Dutton, Laura , Banka, Siddharth , Briggs, Tracy A , Clayton-Smith, Jill , Douzgou, Sofia , Jones, Elizabeth A , Kingston, Helen M , Kerr, Bronwyn , Ealing, John , Somarathi, Suresh , Chandler, Kate E , Stuart, Helen M , Burkitt-Wright, Emma MM , Newman, William G , Bruce, Iain A , Black, Graeme C and Gokhale, David
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
PurposeThe increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the vast array of different rare monogenic disorders. We ha...
Alternative Titles
Full title
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
Authors, Artists and Contributors
Author / Creator
Kyle, Claire
Ellingford, Jamie M
Wright, Ronnie
Taylor, Algy
Bhaskar, Sanjeev S
Campbell, Christopher
Jackson, Harriet
Fairclough, Adele
Rousseau, Abigail
Burghel, George J
Dutton, Laura
Banka, Siddharth
Briggs, Tracy A
Clayton-Smith, Jill
Douzgou, Sofia
Jones, Elizabeth A
Kingston, Helen M
Kerr, Bronwyn
Ealing, John
Somarathi, Suresh
Chandler, Kate E
Stuart, Helen M
Burkitt-Wright, Emma MM
Newman, William G
Bruce, Iain A
Black, Graeme C
Gokhale, David
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8961756
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8961756
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107303
