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- [32] LONG-READ SEQUENCING ALLOWS INCREASED DETECTION OF DE NOVO MUTATIONSAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2523 - 2524不详论文数: 0 引用数: 0 h-index: 0
- [33] Familial long-read sequencing increases yield of de novo mutationsAMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (04) : 631 - 646Noyes, Michelle D.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAHarvey, William T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAPorubsky, David论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USASulovari, Arvis论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USALi, Ruiyang论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USARose, Nicholas R.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAAudano, Peter A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAMunson, Katherine M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USALewis, Alexandra P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAHoekzema, Kendra论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA论文数: 引用数: h-index:机构:Graves-Lindsay, Tina A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, McDonnell Genome Inst, St Louis, MO 63108 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USASanders, Ashley D.论文数: 0 引用数: 0 h-index: 0机构: Genome Biol Unit, European Mol Biol Lab, D-69117 Heidelberg, Germany Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAGoodwin, Sara论文数: 0 引用数: 0 h-index: 0机构: Stanley Inst Cognit Genom, Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAKramer, Melissa论文数: 0 引用数: 0 h-index: 0机构: Stanley Inst Cognit Genom, Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAMokrab, Younes论文数: 0 引用数: 0 h-index: 0机构: Sidra Med, Dept Human Genet, POB 26999, Doha, Qatar Weill Cornell Med, POB 24144, Doha, Qatar Hamad Bin Khalifa Univ, Coll Hlth & Life Sci, POB 34110, Doha, Qatar Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAZody, Michael C.论文数: 0 引用数: 0 h-index: 0机构: New York Genome Ctr, New York, NY 10013 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6500 Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Inst Med Life Sci, Med Ctr, NL-6500 Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Internal Med, Med Ctr, NL-6500 Nijmegen, Netherlands Radboud Univ Nijmegen, Radboud Ctr Infect Dis, Med Ctr, NL-6500 Nijmegen, Netherlands Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAKorbel, Jan O.论文数: 0 引用数: 0 h-index: 0机构: Genome Biol Unit, European Mol Biol Lab, D-69117 Heidelberg, Germany Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAMcCombie, W. Richard论文数: 0 引用数: 0 h-index: 0机构: Stanley Inst Cognit Genom, Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USAEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Sch Med, Seattle, WA 98195 USA
- [34] Comprehensive de novo mutation discovery with HiFi long-read sequencingGENOME MEDICINE, 2023, 15 (01)Kucuk, Erdi论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlandsvan der Sanden, Bart P. G. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsO'Gorman, Luke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsKwint, Michael论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsDerks, Ronny论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsWenger, Aaron M.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsLambert, Christine论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsChakraborty, Shreyasee论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsBaybayan, Primo论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsRowell, William J.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, GROW Sch Oncol & Dev Biol, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr Infect Dis RCI, Med Ctr, Dept Internal Med, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
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