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Centers for Mendelian Genomics: A decade of facilitating gene discovery

Autor: Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Rehm, Heidi L., O’Donnell-Luria, Anne

Publikováno v: Genetics in Medicine; 20220101, Issue: Preprints

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Autor: Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemire G; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Heir E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Serrano J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Abdelhakim M; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Althagafi A; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia., Babbi G; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Bellazzi R; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Bovo S; Department of Agricultural and Food Sciences, University of Bologna, Bologna, Italy., Carta MG; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Casadio R; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Coenen PJ; Invitae, San Francisco, California, USA., De Paoli F; enGenome Srl, Pavia, Italy., Floris M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Gajapathy M; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Hoehndorf R; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Jacobsen JOB; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Joseph T; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Katsonis P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kint C; Invitae, San Francisco, California, USA., Lichtarge O; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Structural and Computational Biology & Molecular Biophysics Program, Baylor College of Medicine, Houston, TX, USA.; Computational and Integrative Biomedical Research Center, Baylor College of Medicine, Houston, TX, USA., Limongelli I; enGenome Srl, Pavia, Italy., Lu Y; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Magni P; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Mamidi TKK; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Martelli PL; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Mulargia M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Nicora G; enGenome Srl, Pavia, Italy., Nykamp K; Invitae, San Francisco, California, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Pham THC; Anatomy and Surgical Training Department, University of Medicine and Pharmacy, Hue University, Vietnam., Podda MS; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Rao A; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Rizzo E; enGenome Srl, Pavia, Italy., Saipradeep VG; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Savojardo C; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Schols P; Invitae, San Francisco, California, USA., Shen Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.; Department of Computer Science and Engineering, Texas A&M University, College Station, TX, USA.; Institute of Biosciences and Technology and Department of Translational Medical Sciences, College of Medicine, Texas A&M University, Houston, Texas, USA., Sivadasan N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Smedley D; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Soru D; Independent consultant., Srinivasan R; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Sun Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Sunderam U; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Tan W; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Tiwari N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Wang X; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Wang Y; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Williams A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Worthey EA; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Yin R; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., You Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Zeiberg D; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Zucca S; enGenome Srl, Pavia, Italy., Bakolitsa C; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Brenner SE; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Fullerton SM; Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 04. Date of Electronic Publication: 2023 Aug 04.