100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
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The 100,000 Genomes Project Pilot Investigators , 100,000 Genomes Project Pilot Investigators , The 100,000 Genomes Project Pilot Investigators , Smedley, Damian , Smith, Katherine R , Martin, Antonio , Thomas, Ellen A , McDonagh, Ellen M , Cipriani, Valentina , Ellingford, Jamie M , Arno, Gavin , Tucci, Arianna , Vandrovcova, Jana , Chan, Georgia , Williams, Hywel J , Ratnaike, Thiloka , Wei, Wei , Stirrups, Kathleen , Ibanez, Kristina , Moutsianas, Loukas , Wielscher, Matthias , Need, Anna , Barnes, Michael R , Vestito, Letizia , Buchanan, James , Wordsworth, Sarah , Ashford, Sofie , Rehmström, Karola , Li, Emily , Fuller, Gavin , Twiss, Philip , Spasic-Boskovic, Olivera , Halsall, Sally , Floto, R Andres , Poole, Kenneth , Wagner, Annette , Mehta, Sarju G , Gurnell, Mark , Burrows, Nigel , James, Roger , Penkett, Christopher , Dewhurst, Eleanor , Gräf, Stefan , Mapeta, Rutendo , Kasanicki, Mary , Haworth, Andrea , Savage, Helen , Babcock, Melanie , Reese, Martin G , Bale, Mark , Baple, Emma , Boustred, Christopher , Brittain, Helen , de Burca, Anna , Bleda, Marta , Devereau, Andrew , Halai, Dina , Haraldsdottir, Eik , Hyder, Zerin , Kasperaviciute, Dalia , Patch, Christine , Polychronopoulos, Dimitris , Matchan, Angela , Sultana, Razvan , Ryten, Mina , Tavares, Ana L T , Tregidgo, Carolyn , Turnbull, Clare , Welland, Matthew , Wood, Suzanne , Snow, Catherine , Williams, Eleanor , Leigh, Sarah , Foulger, Rebecca E , Daugherty, Louise C , Niblock, Olivia , Leong, Ivone U S , Wright, Caroline F , Davies, Jim , Crichton, Charles , Welch, James , Woods, Kerrie , Abulhoul, Lara , Aurora, Paul , Bockenhauer, Detlef , Broomfield, Alexander , Cleary, Maureen A , Lam, Tanya , Dattani, Mehul , Footitt, Emma , Ganesan, Vijeya , Grunewald, Stephanie , Compeyrot-Lacassagne, Sandrine , Muntoni, Francesco , Pilkington, Clarissa , Quinlivan, Rosaline , Thapar, Nikhil , Wallis, Colin , Wedderburn, Lucy R , Worth, Austen , Bueser, Teofila , Compton, Cecilia and Deshpande, Charu
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
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Publication information
Publisher
United States: Massachusetts Medical Society
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More information
Scope and Contents
Contents
The 100,000 Genomes Project is a U.K. government project that is sequencing the genomes of patients with cancer or rare or infectious diseases. This pilot study involving 4660 participants with rare diseases provided actionable diagnoses and identified three newly implicated disease genes and offers a road map for the larger implementation of genom...
Alternative Titles
Full title
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Authors, Artists and Contributors
Author / Creator
100,000 Genomes Project Pilot Investigators
The 100,000 Genomes Project Pilot Investigators
Smedley, Damian
Smith, Katherine R
Martin, Antonio
Thomas, Ellen A
McDonagh, Ellen M
Cipriani, Valentina
Ellingford, Jamie M
Arno, Gavin
Tucci, Arianna
Vandrovcova, Jana
Chan, Georgia
Williams, Hywel J
Ratnaike, Thiloka
Wei, Wei
Stirrups, Kathleen
Ibanez, Kristina
Moutsianas, Loukas
Wielscher, Matthias
Need, Anna
Barnes, Michael R
Vestito, Letizia
Buchanan, James
Wordsworth, Sarah
Ashford, Sofie
Rehmström, Karola
Li, Emily
Fuller, Gavin
Twiss, Philip
Spasic-Boskovic, Olivera
Halsall, Sally
Floto, R Andres
Poole, Kenneth
Wagner, Annette
Mehta, Sarju G
Gurnell, Mark
Burrows, Nigel
James, Roger
Penkett, Christopher
Dewhurst, Eleanor
Gräf, Stefan
Mapeta, Rutendo
Kasanicki, Mary
Haworth, Andrea
Savage, Helen
Babcock, Melanie
Reese, Martin G
Bale, Mark
Baple, Emma
Boustred, Christopher
Brittain, Helen
de Burca, Anna
Bleda, Marta
Devereau, Andrew
Halai, Dina
Haraldsdottir, Eik
Hyder, Zerin
Kasperaviciute, Dalia
Patch, Christine
Polychronopoulos, Dimitris
Matchan, Angela
Sultana, Razvan
Ryten, Mina
Tavares, Ana L T
Tregidgo, Carolyn
Turnbull, Clare
Welland, Matthew
Wood, Suzanne
Snow, Catherine
Williams, Eleanor
Leigh, Sarah
Foulger, Rebecca E
Daugherty, Louise C
Niblock, Olivia
Leong, Ivone U S
Wright, Caroline F
Davies, Jim
Crichton, Charles
Welch, James
Woods, Kerrie
Abulhoul, Lara
Aurora, Paul
Bockenhauer, Detlef
Broomfield, Alexander
Cleary, Maureen A
Lam, Tanya
Dattani, Mehul
Footitt, Emma
Ganesan, Vijeya
Grunewald, Stephanie
Compeyrot-Lacassagne, Sandrine
Muntoni, Francesco
Pilkington, Clarissa
Quinlivan, Rosaline
Thapar, Nikhil
Wallis, Colin
Wedderburn, Lucy R
Worth, Austen
Bueser, Teofila
Compton, Cecilia
Deshpande, Charu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7613219
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7613219
Other Identifiers
ISSN
0028-4793,1533-4406
E-ISSN
1533-4406
DOI
10.1056/NEJMoa2035790
