Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

Autor: Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV

Publikováno v: Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', New England Journal of Medicine . https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
N Engl J Med

Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. Methods We co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ca125a2f1e2095a7c5c211987eca09
https://doi.org/10.1056/nejmoa2209046

The mutational constraint spectrum quantified from variation in 141,456 humans

Autor: Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alföldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O’Donnell-Luria, AH, Vallabh Minikel, E, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, JM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, J, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Genome Aggregation Database (gnomAD) Consortium, Neale, BM, Daly, MJ, MacArthur, DG

Publikováno v: Nature

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6347c7a6a3b85daab7617d0e0fc1f8ca
https://trepo.tuni.fi/handle/10024/128033

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Autor: Sanders, Stephan, Robinson, EB, St, B, Anttila, V, Kosmicki, JA, Bulik-Sullivan, B, Grove, J, Maller, J, Samocha, KE, Sanders, SJ, Ripke, S

Publikováno v: Sanders, Stephan; Robinson, EB; St, B; Anttila, V; Kosmicki, JA; Bulik-Sullivan, B; et al.(2016). Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/93q0f583

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::5b4e57c0cccac7ba4dfb7ebc5c362186
http://www.escholarship.org/uc/item/93q0f583

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Autor: Saleheen, D, Natarajan, P, Armean, IM, Zhao, W, Rasheed, A, Khetarpal, SA, Won, H-H, Karczewski, KJ, O'Donnell-Luria, AH, Samocha, KE, Weisburd, B, Gupta, N, Zaidi, M, Samuel, M, Imran, A, Abbas, S, Majeed, F, Ishaq, M, Akhtar, S, Trindade, K, Mucksavage, M, Qamar, N, Zaman, KS, Yaqoob, Z, Saghir, T, Rizvi, SNH, Memon, A, Hayyat Mallick, N, Rasheed, SZ, Memon, F-U-R, Mahmood, K, Ahmed, N, Do, R, Krauss, RM, MacArthur, DG, Gabriel, S, Lander, ES, Daly, MJ, Frossard, P, Danesh, J, Rader, DJ, Kathiresan, S

A major goal of biomedicine is to understand the function of every gene in the human genome. Loss-of-function mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such 'human knockouts' can provide insight into gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fc3bfdce49d9974ae5a34b8f0ee03e4

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Autor: Chundru VK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK., Zhang Z; GeneDx, Gaithersburg, MD, USA.; Deka Biosciences, Germantown, MD, USA., Walter K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lindsay SJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Danecek P; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Eberhardt RY; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Gardner EJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; MRC Epidemiology Unit, Cambridge, UK., Malawsky DS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Wigdor EM; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK., Torene R; GeneDx, Gaithersburg, MD, USA.; Geisinger, Danville, PA, USA., Retterer K; GeneDx, Gaithersburg, MD, USA.; Geisinger, Danville, PA, USA., Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK., Ólafsdóttir H; GeneDx Iceland, Reykjavík, Iceland., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Ayaz A; Istanbul Medipol University, Medical School, Department of Medical Genetics, Istanbul, Turkey., Akbeyaz IH; Marmara University Medical Faculty, Pendik Training and Research Hospital, Department of Pediatric Neurology, Istanbul, Turkey., Türkdoğan D; Marmara University Medical Faculty, Pendik Training and Research Hospital, Department of Pediatric Neurology, Istanbul, Turkey., Al Balushi AI; The Royal Hospital, Muscat Al Ghubra Area 111 Seeb, Muscat, Oman., Bertoli-Avella A; Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Bauer P; Medical Genetics, CENTOGENE GmbH, Rostock, Germany.; Clinic of Internal Medicine, Department of Hematology, Oncology, and Palliative Medicine, University Medicine Rostock, Rostock, Germany., Szenker-Ravi E; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia., Reversade B; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia., McWalter K; GeneDx, Gaithersburg, MD, USA., Sheridan E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Samocha KE; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ustach VD; GeneDx, Gaithersburg, MD, USA., Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hcm@sanger.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2024 Oct; Vol. 56 (10), pp. 2046-2053. Date of Electronic Publication: 2024 Sep 23.