A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
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Published:2024-04
Issue:4
Volume:26
Page:101073
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Seaby Eleanor G.ORCID, Leggatt Gary, Cheng Guo, Thomas N. Simon, Ashton James J., Stafford Imogen, Baralle Diana, Rehm Heidi L., O’Donnell-Luria Anne, Ennis Sarah, Ambrose J.C., Arumugam P., Bevers R., Bleda M., Boardman-Pretty F., Boustred C.R., Brittain H., Brown M.A., Caulfield M.J., Chan G.C., Giess A., Griffin J.N., Hamblin A., Henderson S., Hubbard T.J.P., Jackson R., Jones L.J., Kasperaviciute D., Kayikci M., Kousathanas A., Lahnstein L., Lakey A., Leigh S.E.A., Leong I.U.S., Lopez F.J., Maleady-Crowe F., McEntagart M., Minneci F., Mitchell J., Moutsianas L., Mueller M., Murugaesu N., Need A.C., O‘Donovan P., Odhams C.A., Patch C., Perez-Gil D., Pereira M.B., Pullinger J., Rahim T., Rendon A., Rogers T., Savage K., Sawant K., Scott R.H., Siddiq A., Sieghart A., Smith S.C., Sosinsky A., Stuckey A., Tanguy M., Taylor Tavares A.L., Thomas E.R.A., Thompson S.R., Tucci A., Welland M.J., Williams E., Witkowska K., Wood S.M., Zarowiecki M.
Funder
National Human Genome Research Institute NIHR
Cited by
2 articles.
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