Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the landscape of DNMs in the germ line. This work both refines and challenges some of the views previously held on the nature and origin of DNMs.
机构:
Kyushu Univ, Dept Med Biophys & Radiat Biol, Fac Med Sci, Higashi Ku, 3-1-1 Maidashi, Fukuoka, Fukuoka 8128582, JapanKyushu Univ, Dept Med Biophys & Radiat Biol, Fac Med Sci, Higashi Ku, 3-1-1 Maidashi, Fukuoka, Fukuoka 8128582, Japan
机构:
Radboud Univ Nijmegen, Dept Human Genet, Radboud Inst Mol Life Sci, Med Ctr, Geert Grootepl 10, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Dept Human Genet, Radboud Inst Mol Life Sci, Med Ctr, Geert Grootepl 10, NL-6525 GA Nijmegen, Netherlands
Goldmann, J. M.
Veltman, J. A.
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Newcastle Univ, Inst Genet Med, Int Ctr Life, Newcastle Upon Tyne, Tyne & Wear, England
Radboud Univ Nijmegen, Dept Human Genet, Donders Ctr Neurosci, Med Ctr, Geert Grootepl 10, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Dept Human Genet, Radboud Inst Mol Life Sci, Med Ctr, Geert Grootepl 10, NL-6525 GA Nijmegen, Netherlands
Veltman, J. A.
Gilissen, C.
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Radboud Univ Nijmegen, Dept Human Genet, Radboud Inst Mol Life Sci, Med Ctr, Geert Grootepl 10, NL-6525 GA Nijmegen, NetherlandsRadboud Univ Nijmegen, Dept Human Genet, Radboud Inst Mol Life Sci, Med Ctr, Geert Grootepl 10, NL-6525 GA Nijmegen, Netherlands
机构:
Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Wong, Wendy S. W.
Solomon, Benjamin D.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Virginia Commonwealth Univ, Dept Pediat, Sch Med, 1201 E Marshall St, Richmond, VA 23298 USA
Inova Hlth Syst, Inova Childrens Hosp, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Solomon, Benjamin D.
Bodian, Dale L.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Bodian, Dale L.
Kothiyal, Prachi
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Kothiyal, Prachi
Eley, Greg
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Eley, Greg
Huddleston, Kathi C.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Huddleston, Kathi C.
Baker, Robin
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Inova Hlth Syst, Inova Childrens Hosp, 3300 Gallows Rd, Falls Church, VA 22042 USA
Inova Hlth Syst, Fairfax Neonatal Associates, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Baker, Robin
Thach, Dzung C.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Thach, Dzung C.
Iyer, Ramaswamy K.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Virginia Commonwealth Univ, Dept Obstet & Gynecol, Sch Med, 1201 E Marshall St, Richmond, VA 23298 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Iyer, Ramaswamy K.
Vockley, Joseph G.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Virginia Commonwealth Univ, Dept Pediat, Sch Med, 1201 E Marshall St, Richmond, VA 23298 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Vockley, Joseph G.
Niederhuber, John E.
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Inova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
Johns Hopkins Univ, Sch Med, 733 North Broadway St, Baltimore, MD 21205 USAInova Hlth Syst, Inova Translat Med Inst, 3300 Gallows Rd, Falls Church, VA 22042 USA
机构:
Guangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R ChinaGuangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China
Ma, Jun-Yu
Xia, Tian-Jin
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Guangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China
Qingdao Agr Univ, Coll Life Sci, Qingdao, Peoples R ChinaGuangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China
Xia, Tian-Jin
Li, Shuai
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Guangdong Second Prov Gen Hosp, Ctr Clin Epidemiol & Methodol, Guangzhou, Peoples R ChinaGuangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China
Li, Shuai
Yin, Shen
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Qingdao Agr Univ, Coll Life Sci, Qingdao, Peoples R ChinaGuangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China
Yin, Shen
Luo, Shi-Ming
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Guangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R ChinaGuangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China
Luo, Shi-Ming
Li, Guowei
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Guangdong Second Prov Gen Hosp, Ctr Clin Epidemiol & Methodol, Guangzhou, Peoples R ChinaGuangdong Second Prov Gen Hosp, Reprod Med Ctr, Guangdong Hong Kong Metab & Reprod Joint Lab, Fertil Preservat Lab, Guangzhou, Peoples R China