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- [1] MLb-LDLr A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense VariantsJACC-BASIC TO TRANSLATIONAL SCIENCE, 2021, 6 (11): : 815 - 827Larrea-Sebal, Asier论文数: 0 引用数: 0 h-index: 0机构: Fdn Biofis Bizkaia, Leioa, Spain Univ Basque Country, CSIC, Inst Biofis UPV EHU, Leioa, Spain Fdn Biofis Bizkaia, Leioa, SpainBenito-Vicente, Asier论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country, CSIC, Inst Biofis UPV EHU, Leioa, Spain Univ Basque Country, Dept Biochem & Mol Biol, Leioa, Spain Fdn Biofis Bizkaia, Leioa, SpainFernandez-Higuero, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country, Dept Biochem & Mol Biol, Leioa, Spain Fdn Biofis Bizkaia, Leioa, SpainJebari-Benslaiman, Shifa论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country, CSIC, Inst Biofis UPV EHU, Leioa, Spain Univ Basque Country, Dept Biochem & Mol Biol, Leioa, Spain Fdn Biofis Bizkaia, Leioa, SpainGalicia-Garcia, Unai论文数: 0 引用数: 0 h-index: 0机构: Fdn Biofis Bizkaia, Leioa, Spain Univ Basque Country, CSIC, Inst Biofis UPV EHU, Leioa, Spain Fdn Biofis Bizkaia, Leioa, SpainUribe, Kepa B.论文数: 0 引用数: 0 h-index: 0机构: Basque Res & Technol Alliance BRTA, Ctr Cooperat Res Biomat CIC BiomaGUNE, Donostia San Sebastian, Spain Fdn Biofis Bizkaia, Leioa, SpainCenarro, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, CIBERCV, Hosp Univ Miguel Servet, Lipid Unit,IIS Aragon, Zaragoza, Spain Fdn Biofis Bizkaia, Leioa, SpainOstolaza, Helena论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country, CSIC, Inst Biofis UPV EHU, Leioa, Spain Univ Basque Country, Dept Biochem & Mol Biol, Leioa, Spain Fdn Biofis Bizkaia, Leioa, Spain论文数: 引用数: h-index:机构:Arrasate, Sonia论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country UPV EHU, Dept Organ & Inorgan Chem, Leioa, Spain Fdn Biofis Bizkaia, Leioa, SpainGonzalez-Diaz, Humberto论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country, CSIC, Inst Biofis UPV EHU, Leioa, Spain Basque Fdn Sci, IKERBASQUE, Plaza Euskadi 5, Bilbao 48011, Spain Fdn Biofis Bizkaia, Leioa, Spain论文数: 引用数: h-index:机构:
- [2] LYRUS: a machine learning model for predicting the pathogenicity of missense variantsBIOINFORMATICS ADVANCES, 2022, 2 (01):Lai, Jiaying论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USA Brown Univ, Ctr Computat Mol Biol, Providence, RI 02906 USA Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USAYang, Jordan论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Dept Chem, Providence, RI 02906 USA Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USAGamsiz Uzun, Ece D.论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Ctr Computat Mol Biol, Providence, RI 02906 USA Brown Univ, Alpert Med Sch, Dept Pathol & Lab Med, Providence, RI 02903 USA Rhode Isl Hosp, Dept Pathol, Providence, RI 02903 USA Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USARubenstein, Brenda M.论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Ctr Computat Mol Biol, Providence, RI 02906 USA Brown Univ, Dept Chem, Providence, RI 02906 USA Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USASarkar, Indra Neil论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USA Rhode Isl Qual Inst, Providence, RI 02908 USA Brown Univ, Ctr Biomed Informat, Providence, RI 02903 USA
- [3] Advancing Prediction of Pathogenicity of Familial Hypercholesterolemia LDL Receptor Commonest Variants With Machine Learning ModelsJACC-BASIC TO TRANSLATIONAL SCIENCE, 2021, 6 (11): : 828 - 830Santos, Raul D.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Heart Inst InCor, Ave Dr Eneas C Aguiar 44, BR-05403000 Sao Paulo, Brazil Hosp Israelita Albert Einstein, Sao Paulo, Brazil Univ Sao Paulo, Heart Inst InCor, Ave Dr Eneas C Aguiar 44, BR-05403000 Sao Paulo, Brazil
- [4] Rhapsody: predicting the pathogenicity of human missense variantsBIOINFORMATICS, 2020, 36 (10) : 3084 - 3092Ponzoni, Luca论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USA Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USAPenaherrera, Daniel A.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USA Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USAOltvai, Zoltan N.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USA Univ Pittsburgh, Dept Pathol, Pittsburgh, PA 15261 USA Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USABahar, Ivet论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USA Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA 15261 USA
- [5] Pathogenicity Prediction of GABAA Receptor Missense VariantsISRAEL JOURNAL OF CHEMISTRY, 2024,Wang, Ya-Juan论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USAVu, Giang H.论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Sch Med, Dept Biochem, Cleveland, OH 44106 USA Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USAMu, Ting-Wei论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA Case Western Reserve Univ, Sch Med, Dept Physiol & Biophys, Cleveland, OH 44106 USA
- [6] Predicting pathogenicity of missense variants with weakly supervised regressionHUMAN MUTATION, 2019, 40 (09) : 1579 - 1592Cao, Yue论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USASun, Yuanfei论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USAKarimi, Mostafa论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USAChen, Haoran论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USAMoronfoye, Oluwaseyi论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USAShen, Yang论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA Texas A&M Univ, Dept Elect & Comp Engn, College Stn, TX 77843 USA
- [7] A Novel Machine Learning Based in silico Pathogenicity Predictor for Missense Variants in a Hematological SettingBLOOD, 2019, 134Hutter, Stephan论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany MLL Munich Leukemia Lab, Munich, GermanyBaer, Constance论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany MLL Munich Leukemia Lab, Munich, GermanyWalter, Wencke论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany MLL Munich Leukemia Lab, Munich, GermanyKern, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany MLL Munich Leukemia Lab, Munich, GermanyHaferlach, Claudia论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany MLL Munich Leukemia Lab, Munich, GermanyHaferlach, Torsten论文数: 0 引用数: 0 h-index: 0机构: MLL Munchner Leukamie Labor Gmbh, Munich, Germany MLL Munich Leukemia Lab, Munich, Germany
- [8] REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense VariantsAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 877 - 885Ioannidis, Nilah M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Hlth Res & Policy, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USARothstein, Joseph H.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Hlth Res & Policy, Stanford, CA 94305 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAPejaver, Vikas论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Dept Comp Sci & Informat, Bloomington, IN 47405 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAMiddha, Sumit论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAMcDonnell, Shannon K.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USABaheti, Saurabh论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAMusolf, Anthony论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Computat & Stat Genom Branch, Baltimore, MD 21224 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USALi, Qing论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Computat & Stat Genom Branch, Baltimore, MD 21224 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAHolzinger, Emily论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Computat & Stat Genom Branch, Baltimore, MD 21224 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAKaryadi, Danielle论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Canc Genet & Comparat Genom Branch, Bethesda, MD 20892 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USACannon-Albright, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Internal Med, Salt Lake City, UT 84108 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USATeerlink, Craig C.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Internal Med, Salt Lake City, UT 84108 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAStanford, Janet L.论文数: 0 引用数: 0 h-index: 0机构: Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAIsaacs, William B.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Brady Urol Inst, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21287 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAXu, Jianfeng论文数: 0 引用数: 0 h-index: 0机构: NorthShore Univ HealthSyst Res Inst, Evanston, IL 60201 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USACooney, Kathleen A.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Internal Med, Salt Lake City, UT 84108 USA Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Urol, Ann Arbor, MI 48109 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USALange, Ethan M.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC 27599 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USASchleutker, Johanna论文数: 0 引用数: 0 h-index: 0机构: Univ Turku, Dept Med Biochem & Genet, Turku 20014, Finland Turku Univ Hosp, Dept Med Genet Tyks Microbiol & Genet, FIN-20520 Turku, Finland Stanford Univ, Dept Genet, Stanford, CA 94305 USACarpten, John D.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAPowell, Isaac J.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Dept Urol, Detroit, MI 48201 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USA论文数: 引用数: h-index:机构:Cancel-Tassin, Geraldine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Ctr Rech Pathol Prostat & Urol, F-75013 Paris, France Stanford Univ, Dept Genet, Stanford, CA 94305 USAGiles, Graham G.论文数: 0 引用数: 0 h-index: 0机构: Canc Council Victoria, Cancer Epidemiol Ctr, Melbourne, Vic 3004, Australia Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne, Vic 3010, Australia Stanford Univ, Dept Genet, Stanford, CA 94305 USAMacInnis, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Canc Council Victoria, Cancer Epidemiol Ctr, Melbourne, Vic 3004, Australia Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne, Vic 3010, Australia Stanford Univ, Dept Genet, Stanford, CA 94305 USAMaier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ulm, Inst Human Genet, D-89075 Ulm, Germany Univ Hosp Ulm, Dept Urol, D-89075 Ulm, Germany Stanford Univ, Dept Genet, Stanford, CA 94305 USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Catalona, William J.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Urol, Feinberg Sch Med, Chicago, IL 60611 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAFoulkes, William D.论文数: 0 引用数: 0 h-index: 0机构: Montreal Gen Hosp, Dept Oncol, Montreal, PQ H3G 1A4, Canada Montreal Gen Hosp, Dept Human Genet, Montreal, PQ H3G 1A4, Canada Stanford Univ, Dept Genet, Stanford, CA 94305 USAMandal, Diptasri论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Genet, New Orleans, LA 70112 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAEeles, Rosalind A.论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, Div Genet & Epidemiol, Sutton SM2 5NG, Surrey, England Stanford Univ, Dept Genet, Stanford, CA 94305 USAKote-Jarai, Zsofia论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, Div Genet & Epidemiol, Sutton SM2 5NG, Surrey, England Stanford Univ, Dept Genet, Stanford, CA 94305 USABustamante, Carlos D.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USASchaid, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USA论文数: 引用数: h-index:机构:Ostrander, Elaine A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Canc Genet & Comparat Genom Branch, Bethesda, MD 20892 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USABailey-Wilson, Joan E.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Computat & Stat Genom Branch, Baltimore, MD 21224 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USARadivojac, Predrag论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Dept Comp Sci & Informat, Bloomington, IN 47405 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAThibodeau, Stephen N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USAWhittemore, Alice S.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Hlth Res & Policy, Stanford, CA 94305 USA Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USASieh, Weiva论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Hlth Res & Policy, Stanford, CA 94305 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA Stanford Univ, Dept Genet, Stanford, CA 94305 USA
- [9] MVP predicts the pathogenicity of missense variants by deep learningNature Communications, 12Hongjian Qi论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyHaicang Zhang论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyYige Zhao论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyChen Chen论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyJohn J. Long论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyWendy K. Chung论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyYongtao Guan论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems BiologyYufeng Shen论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Systems Biology
- [10] MVP predicts the pathogenicity of missense variants by deep learningNATURE COMMUNICATIONS, 2021, 12 (01)Qi, Hongjian论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, New York, NY 10027 USA Columbia Univ, Dept Appl Math & Appl Phys, New York, NY USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USAZhang, Haicang论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, New York, NY 10027 USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USAZhao, Yige论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, New York, NY 10027 USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USAChen, Chen论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, New York, NY 10027 USA Columbia Univ, Dept Biol Sci, New York, NY USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USALong, John J.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Appl Math & Appl Phys, New York, NY USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat & Med, New York, NY USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USAGuan, Yongtao论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Duke Univ, Dept Biostat & Bioinformat, Durham, NC USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USAShen, Yufeng论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, New York, NY 10027 USA Columbia Univ, Dept Biomed Informat, New York, NY 10027 USA Columbia Univ, JP Sulzberger Columbia Genome Ctr, New York, NY 10027 USA Columbia Univ, Dept Syst Biol, New York, NY 10027 USA