Tyck till om SwePub Sök här!
WFRF:(Tuna Salih)
Search: WFRF:(Tuna Salih) > Medical and Health Sciences > Whole-genome sequen...
- 1 of 1
- Previous record
- Next record
- To hitlist
Whole-genome sequencing of patients with rare diseases in a national health system.
- Turro, Ernest (author)
- Astle, William J (author)
- Megy, Karyn (author)
- show more...
- Gräf, Stefan (author)
- Greene, Daniel (author)
- Shamardina, Olga (author)
- Allen, Hana Lango (author)
- Sanchis-Juan, Alba (author)
- Frontini, Mattia (author)
- Thys, Chantal (author)
- Stephens, Jonathan (author)
- Mapeta, Rutendo (author)
- Burren, Oliver S (author)
- Downes, Kate (author)
- Haimel, Matthias (author)
- Tuna, Salih (author)
- Deevi, Sri V V (author)
- Aitman, Timothy J (author)
- Bennett, David L (author)
- Calleja, Paul (author)
- Carss, Keren (author)
- Caulfield, Mark J (author)
- Chinnery, Patrick F (author)
- Dixon, Peter H (author)
- Gale, Daniel P (author)
- James, Roger (author)
- Koziell, Ania (author)
- Laffan, Michael A (author)
- Levine, Adam P (author)
- Maher, Eamonn R (author)
- Markus, Hugh S (author)
- Morales, Joannella (author)
- Morrell, Nicholas W (author)
- Mumford, Andrew D (author)
- Ormondroyd, Elizabeth (author)
- Rankin, Stuart (author)
- Rendon, Augusto (author)
- Richardson, Sylvia (author)
- Roberts, Irene (author)
- Roy, Noemi B A (author)
- Saleem, Moin A (author)
- Smith, Kenneth G C (author)
- Stark, Hannah (author)
- Tan, Rhea Y Y (author)
- Themistocleous, Andreas C (author)
- Thrasher, Adrian J (author)
- Watkins, Hugh (author)
- Webster, Andrew R (author)
- Wilkins, Martin R (author)
- Williamson, Catherine (author)
- Whitworth, James (author)
- Humphray, Sean (author)
- Bentley, David R (author)
- Kingston, Nathalie (author)
- Walker, Neil (author)
- Bradley, John R (author)
- Ashford, Sofie (author)
- Penkett, Christopher J (author)
- Freson, Kathleen (author)
- Stirrups, Kathleen E (author)
- Raymond, F Lucy (author)
- Ouwehand, Willem H (author)
- show less...
- (creator_code:org_t)
- 2020-06-24
- 2020
- English.
- In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 583:7814, s. 96-102
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Allmänmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- General Practice (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Turro, Ernest
- Astle, William J
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- show more...
- Allen, Hana Lang ...
- Sanchis-Juan, Al ...
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonath ...
- Mapeta, Rutendo
- Burren, Oliver S
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri V V
- Aitman, Timothy ...
- Bennett, David L
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark ...
- Chinnery, Patric ...
- Dixon, Peter H
- Gale, Daniel P
- James, Roger
- Koziell, Ania
- Laffan, Michael ...
- Levine, Adam P
- Maher, Eamonn R
- Markus, Hugh S
- Morales, Joannel ...
- Morrell, Nichola ...
- Mumford, Andrew ...
- Ormondroyd, Eliz ...
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylv ...
- Roberts, Irene
- Roy, Noemi B A
- Saleem, Moin A
- Smith, Kenneth G ...
- Stark, Hannah
- Tan, Rhea Y Y
- Themistocleous, ...
- Thrasher, Adrian ...
- Watkins, Hugh
- Webster, Andrew ...
- Wilkins, Martin ...
- Williamson, Cath ...
- Whitworth, James
- Humphray, Sean
- Bentley, David R
- Kingston, Nathal ...
- Walker, Neil
- Bradley, John R
- Ashford, Sofie
- Penkett, Christo ...
- Freson, Kathleen
- Stirrups, Kathle ...
- Raymond, F Lucy
- Ouwehand, Willem ...
- Marschall, Hanns ...
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and General Practice
- Articles in the publication
- Nature
- By the university
- University of Gothenburg
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
