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- [11] Estimation of allele frequency of pathological variants based on whole-genome sequencing of 1070 Japanese individualsGENES & GENETIC SYSTEMS, 2015, 90 (06) : 379 - 379Yamaguchi-Kabata, Yumi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Med, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan论文数: 引用数: h-index:机构:Kojima, Kaname论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Med, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, JapanNariai, Naoki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Med, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, JapanMimori, Takahiro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan论文数: 引用数: h-index:机构:Katsuoka, Fumiki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Med, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, JapanYasuda, Jun论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Med, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan论文数: 引用数: h-index:机构:Nagasaki, Masao论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Med, Sendai, Miyagi 980, Japan Tohoku Univ, Grad Sch Inform Sci, Sendai, Miyagi 980, Japan Tohoku Univ, Tohoku Med Megabank Org, Dept Inst Genom, Sendai, Miyagi 980, Japan
- [12] Pathogenic variants in KPTN gene identified by clinical whole-genome sequencingCOLD SPRING HARBOR MOLECULAR CASE STUDIES, 2020, 6 (03):Thiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAAtherton, Andrea论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAHeese, Bryce A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAAbdelmoity, Ahmed T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAPawar, Kailash论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA论文数: 引用数: h-index:机构:Zellmer, Lee论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAMiller, Neil论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USASoden, Sarah论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USASaunders, Carol论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
- [13] Identification of copy number variants in whole-genome data using Reference Coverage ProfilesFRONTIERS IN GENETICS, 2015, 6Glusman, Gustavo论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USASeverson, Alissa论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USADhankani, Varsha论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USARobinson, Max论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USAFarrah, Terry论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USAMauldin, Denise E.论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USAStittrich, Anna B.论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USAAment, Seth A.论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USARoach, Jared C.论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USABrunkow, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USABodian, Dale L.论文数: 0 引用数: 0 h-index: 0机构: Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA USA Inst Syst Biol, Seattle, WA 98109 USAVockley, Joseph G.论文数: 0 引用数: 0 h-index: 0机构: Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA USA Inst Syst Biol, Seattle, WA 98109 USAShmulevich, Ilya论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USANiederhuber, John E.论文数: 0 引用数: 0 h-index: 0机构: Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA USA Inst Syst Biol, Seattle, WA 98109 USAHood, Leroy论文数: 0 引用数: 0 h-index: 0机构: Inst Syst Biol, Seattle, WA 98109 USA Inst Syst Biol, Seattle, WA 98109 USA
- [14] Improved Imputation Accuracy of Rare and Low-Frequency Genetic Variants Using Population-Specific High-Coverage Whole-Genome Sequencing Data Based Imputation Reference PanelHUMAN HEREDITY, 2016, 81 (04) : 235 - 235Mitt, Mario论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Tartu, Inst Mol & Cell Biol, Dept Biotechnol, Tartu, Estonia Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaKals, Mart论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Tartu, Inst Math & Stat, Tartu, Estonia Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaParn, Kalle论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaGabriel, Stacey B.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA USA Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaLander, Eric S.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA USA Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaPalotie, Aarno论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland Broad Inst MIT & Harvard, Cambridge, MA USA Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaRipatti, Samuli论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaMorris, Andrew P.论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Liverpool, Dept Biostat, Liverpool, Merseyside, England Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaMetspalu, Andres论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Tartu, Inst Mol & Cell Biol, Dept Biotechnol, Tartu, Estonia Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaEsko, Tonu论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Broad Inst MIT & Harvard, Cambridge, MA USA Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaMagi, Reedik论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Tartu, Estonian Genome Ctr, Tartu, EstoniaPalta, Priit论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Estonian Genome Ctr, Tartu, Estonia Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland Univ Tartu, Estonian Genome Ctr, Tartu, Estonia
- [15] Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variantsEXPERIMENTAL AND MOLECULAR MEDICINE, 2025, : 775 - 787Kim, Jung Ah论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaJang, Seung Hyun论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaJoo, Sun Yung论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaKim, Se Jin论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South KoreaChoi, Jae Young论文数: 0 引用数: 0 h-index: 0机构: Won Sang Lee Inst Hearing Loss, Seoul, South Korea Yonsei Univ, Coll Med, Dept Otorhinolaryngol, Seoul, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Pharmacol, Brain Korea 21 Project,Coll Med, Seoul, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [16] NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese populationCELL REPORTS, 2021, 37 (07):Zhang, Peng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaLi, Yanyan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaLuo, Huaxia论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, CAS Ctr Excellence Biomacromol, Natl Lab Biomacromol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaWang, You论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, CAS Ctr Excellence Biomacromol, Natl Lab Biomacromol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaWang, Jiajia论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaZheng, Yu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaNiu, Yiwei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaShi, Yirong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaZhou, Honghong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaSong, Tingrui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaKang, Quan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaXu, Tao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, CAS Ctr Excellence Biomacromol, Natl Lab Biomacromol, Beijing 100101, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R ChinaHe, Shunmin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Inst Biophys, Ctr Big Data Res Hlth, Key Lab RNA Biol, Beijing 100101, Peoples R China
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