Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.

Autor: Holt GS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Batty LE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Smith HE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Ramos L; Department of Obstetrics and Gynecology, Division of Reproductive Medicine, Radboudumc, Nijmegen, The Netherlands., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

Publikováno v: Human mutation [Hum Mutat] 2022 Nov; Vol. 43 (11), pp. 1545-1556. Date of Electronic Publication: 2022 Sep 14.

A de novo paradigm for male infertility.

Autor: Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Smits RM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Smith HE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Mastrorosa FK; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Holt GS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Houston BJ; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Batty LE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Ismail H; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Greenwood J; Department of Genetic Medicine, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Sheth H; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India., Mikulasova A; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Astuti GDN; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., McEleny K; Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Turner H; Department of Cellular Pathology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Coxhead J; Genomics Core Facility, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Cockell S; Bioinformatics Support Unit, Faculty of Medical Sciences New, castle University, Newcastle upon Tyne, UK., Braat DDM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Fleischer K; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., D'Hauwers KWM; Department of Urology, Radboudumc, Nijmegen, The Netherlands., Schaafsma E; Department of Pathology, Radboudumc, Nijmegen, The Netherlands., Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA., Friedrich C; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Aston KI; Department of Surgery, Division of Urology, University of Utah School of Medicine, Salt Lake City, UT, USA., Riera-Escamilla A; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Catalonia, Spain., Krausz C; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY, USA., Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Elliott DJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., O'Bryan MK; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia., Ramos L; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., van der Heijden GW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. joris.veltman@newcastle.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2022 Jan 10; Vol. 13 (1), pp. 154. Date of Electronic Publication: 2022 Jan 10.