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Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort

Detalles Bibliográficos
Autores principales: Best, Sunayna, Inglehearn, Chris F., Watson, Christopher M., Toomes, Carmel, Wheway, Gabrielle, Johnson, Colin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315030/
https://www.ncbi.nlm.nih.gov/pubmed/35289502
http://dx.doi.org/10.1002/ajmg.c.31965
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author Best, Sunayna
Inglehearn, Chris F.
Watson, Christopher M.
Toomes, Carmel
Wheway, Gabrielle
Johnson, Colin A.
author_facet Best, Sunayna
Inglehearn, Chris F.
Watson, Christopher M.
Toomes, Carmel
Wheway, Gabrielle
Johnson, Colin A.
author_sort Best, Sunayna
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spelling pubmed-93150302022-07-30 Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort Best, Sunayna Inglehearn, Chris F. Watson, Christopher M. Toomes, Carmel Wheway, Gabrielle Johnson, Colin A. Am J Med Genet C Semin Med Genet Commentary John Wiley & Sons, Inc. 2022-03-15 2022-03 /pmc/articles/PMC9315030/ /pubmed/35289502 http://dx.doi.org/10.1002/ajmg.c.31965 Text en © 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Commentary
Best, Sunayna
Inglehearn, Chris F.
Watson, Christopher M.
Toomes, Carmel
Wheway, Gabrielle
Johnson, Colin A.
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
title Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
title_full Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
title_fullStr Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
title_full_unstemmed Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
title_short Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
title_sort unlocking the potential of the uk 100,000 genomes project—lessons learned from analysis of the “congenital malformations caused by ciliopathies” cohort
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315030/
https://www.ncbi.nlm.nih.gov/pubmed/35289502
http://dx.doi.org/10.1002/ajmg.c.31965
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