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- [1] Next-Generation Sequencing to Diagnose Suspected Genetic DisordersNEW ENGLAND JOURNAL OF MEDICINE, 2019, 380 (02): : 200 - 201Choy, Kay W.论文数: 0 引用数: 0 h-index: 0机构: Monash Hlth, Clayton, Vic, Australia Monash Hlth, Clayton, Vic, Australia
- [2] Next-Generation Sequencing to Diagnose Suspected Genetic Disorders ReplyNEW ENGLAND JOURNAL OF MEDICINE, 2019, 380 (02): : 201 - 201Adams, David R.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USAEng, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA NHGRI, Bethesda, MD 20892 USA
- [3] Targeted next-generation sequencing to diagnose disorders of HDL cholesterolJOURNAL OF LIPID RESEARCH, 2015, 56 (10) : 1993 - 2001Sadananda, Singh N.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Translat Lab Genet Med, Singapore, Singapore Natl Univ Singapore, Singapore 117548, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeFoo, Jia Nee论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Singapore 117548, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeToh, Meng Tiak论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Translat Lab Genet Med, Singapore, Singapore Natl Univ Singapore, Singapore 117548, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeCermakova, Lubomira论文数: 0 引用数: 0 h-index: 0机构: St Pauls Hosp, Hlth Heart Program Prevent Clin, Vancouver, BC V6Z 1Y6, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeTrigueros-Motos, Laia论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Translat Lab Genet Med, Singapore, Singapore Natl Univ Singapore, Singapore 117548, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeChan, Teddy论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Heart Lung Innovat, Vancouver, BC V5Z 1M9, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeLiany, Herty论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Singapore 117548, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeCollins, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Child & Family Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 1M9, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeGerami, Sima论文数: 0 引用数: 0 h-index: 0机构: St Pauls Hosp, Hlth Heart Program Prevent Clin, Vancouver, BC V6Z 1Y6, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeSingaraja, Roshni R.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Translat Lab Genet Med, Singapore, Singapore Natl Univ Singapore, Singapore 117548, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeHayden, Michael R.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Translat Lab Genet Med, Singapore, Singapore Natl Univ Singapore, Singapore 117548, Singapore Univ British Columbia, Child & Family Res Inst, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 1M9, Canada Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Med, Singapore 117595, Singapore ASTAR, Translat Lab Genet Med, Singapore, SingaporeFrancis, Gordon A.论文数: 0 引用数: 0 h-index: 0机构: St Pauls Hosp, Hlth Heart Program Prevent Clin, Vancouver, BC V6Z 1Y6, Canada Univ British Columbia, Ctr Heart Lung Innovat, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Dept Med, Vancouver, BC V5Z 1M9, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeFrohlich, Jiri论文数: 0 引用数: 0 h-index: 0机构: St Pauls Hosp, Hlth Heart Program Prevent Clin, Vancouver, BC V6Z 1Y6, Canada Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1M9, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeKhor, Chiea Chuen论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Singapore 117548, Singapore St Pauls Hosp, Hlth Heart Program Prevent Clin, Vancouver, BC V6Z 1Y6, Canada ASTAR, Translat Lab Genet Med, Singapore, SingaporeBrunham, Liam R.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Translat Lab Genet Med, Singapore, Singapore Natl Univ Singapore, Singapore 117548, Singapore Univ British Columbia, Ctr Heart Lung Innovat, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Dept Med, Vancouver, BC V5Z 1M9, Canada ASTAR, Translat Lab Genet Med, Singapore, Singapore
- [4] Next-generation sequencing for rare genetic disordersCURRENT OPINION IN BIOTECHNOLOGY, 2011, 22 : S19 - S19Tekin, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami Miller, Sch Med, John T Macdonald Fdn, Dept Human Genet, Miami, FL USA Univ Miami Miller, Sch Med, John P Hussman Inst Human Genom, Miami, FL USA Univ Miami Miller, Sch Med, John T Macdonald Fdn, Dept Human Genet, Miami, FL USA
- [5] Diagnosis of genetic disorders in childhood with next-generation sequencingORVOSI HETILAP, 2022, 163 (51) : 2027 - 2040Otilia, Menyhart论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Egyet, Altalanos Orvostud Kar, Bioinformatika Tanszek, Budapest, Hungary Termeszettud Kutatokozpont, Enzimol Int, Onkol Biomarkcr Kutatocsoport, Budapest, Hungary Semmelweis Egyet, Altalanos Orvostud Kar, Bioinformatika Tanszek, Budapest, HungaryBalazs, Gyorffy论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Egyet, Altalanos Orvostud Kar, Bioinformatika Tanszek, Budapest, Hungary Termeszettud Kutatokozpont, Enzimol Int, Onkol Biomarkcr Kutatocsoport, Budapest, Hungary Semmelweis Egyet, Altalanos Orvostud Kar, Sz Gyermekgyogyaszati Klin 2, Budapest, Hungary Semmelweis Egyet, Altalanos Orvostud Kar, Bioinformatika Tanszek, Budapest, HungaryAndras, Szabo论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Egyet, Altalanos Orvostud Kar, Sz Gyermekgyogyaszati Klin 2, Budapest, Hungary Semmelweis Egyet, Altalanos Orvostud Kar, Bioinformatika Tanszek, Budapest, Hungary
- [6] The Oculome Panel Test Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye DisordersOPHTHALMOLOGY, 2019, 126 (06) : 888 - 907Patel, Aara论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandHayward, Jane D.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandTailor, Vijay论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandNyanhete, Rodney论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Thames Reg Genet Lab, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandAhlfors, Helena论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Thames Reg Genet Lab, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandGabriel, Camila论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandJannini, Tommaso B.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandAbbou-Rayyah, Yassir论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Ophthalmol, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandHenderson, Robert论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Ophthalmol, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandNischal, Ken K.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Ophthalmol, London, England Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, UPMC Eye Ctr,UPMC, Pittsburgh, PA USA Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandIslam, Lily论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Birmingham Womens Hosp, Birmingham, W Midlands, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandBitner-Glindzicz, Maria论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandHurst, Jane论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandValdivia, Leonardo E.论文数: 0 引用数: 0 h-index: 0机构: Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandZanolli, Mario论文数: 0 引用数: 0 h-index: 0机构: Univ Desarrollo, Fac Med Clin Alemana Santiago, Santiago, Chile Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandMoosajee, Mariya论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England Great Ormond St Hosp Sick Children, Dept Ophthalmol, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandBrookes, John论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Ophthalmol, London, England Moorfields Eye Hosp NHS Fdn Trust, Glaucoma Serv, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandPapadopoulos, Maria论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp NHS Fdn Trust, Glaucoma Serv, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandKhaw, Peng T.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England Moorfields Eye Hosp NHS Fdn Trust, Glaucoma Serv, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandCullup, Thomas论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Thames Reg Genet Lab, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandJenkins, Lucy论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Sick Children, North East Thames Reg Genet Lab, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandDahlmann-Noor, Annegret论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, EnglandSowden, Jane C.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England Great Ormond St Hosp Children NHS Fdn Trust, NIHR Biomed Res Ctr, London, England UCL, London, England Great Ormond St Hosp Children NHS Fdn Trust, UCL Great Ormond St Inst Child Hlth, London, England
- [7] Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencingNEUROLOGY-GENETICS, 2015, 1 (04)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Takahashi, Toshiaki论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org Sendai Nishitaga, Dept Neurol, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanSuzuki, Naoki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanTateyama, Maki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, Japan Iwate Natl Hosp, Dept Neurol, Ichinoseki, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanWatanabe, Chigusa论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Nishi Med Ctr, Dept Neurol, Hiroshima, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanSugie, Kazuma论文数: 0 引用数: 0 h-index: 0机构: Nara Med Univ, Dept Neurol, Nara, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanNakanishi, Hirotaka论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Grad Sch Med, Dept Neurol, Nagoya, Aichi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanSobue, Gen论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Grad Sch Med, Res Div Neurodegenerat & Dementia, Nagoya, Aichi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanKato, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanWarita, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, JapanAoki, Yoko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Med, Dept Med Genet, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Med, Dept Neurol, Sendai, Miyagi, Japan论文数: 引用数: h-index:机构:
- [8] Next-generation sequencing for mitochondrial disordersBRITISH JOURNAL OF PHARMACOLOGY, 2014, 171 (08) : 1837 - 1853Carroll, C. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Res Programs Unit, Biomedicum Helsinki, Helsinki, Finland Univ Helsinki, Res Programs Unit, Biomedicum Helsinki, Helsinki, Finland论文数: 引用数: h-index:机构:Suomalainen, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Res Programs Unit, Biomedicum Helsinki, Helsinki, Finland Univ Helsinki, Res Programs Unit, Biomedicum Helsinki, Helsinki, Finland
- [9] Next-generation sequencing in childhood disordersARCHIVES OF DISEASE IN CHILDHOOD, 2014, 99 (03) : 284 - +Schnekenberg, Ricardo Parolin论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Posit, Sch Med, Curitiba, Parana, Brazil Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, EnglandNemeth, Andrea H.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England Oxford Univ Hosp NHS Trust, Dept Clin Genet, Churchill Hosp, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England
- [10] Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencingActa Diabetologica, 2019, 56 : 515 - 523Hamza Dallali论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSerena Pezzilli论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMeriem Hechmi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsOm Kalthoum Sallem论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSahar Elouej论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsHaifa Jmel论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsYosra Ben Halima论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMariem Chargui论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMariem Gharbi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsLuana Mercuri论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsFederica Alberico论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsTommaso Mazza论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsAfaf Bahlous论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsMelika Ben Ahmed论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsHenda Jamoussi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsAbdelmajid Abid论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsVincenzo Trischitta论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSonia Abdelhak论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsSabrina Prudente论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and OncogeneticsRym Kefi论文数: 0 引用数: 0 h-index: 0机构: Institut Pasteur de Tunis,Laboratory of Biomedical Genomics and Oncogenetics