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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argili, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong; White, Susan M; Töpf, Ana.
Affiliation
  • Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Russell K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Baxter S; Harvard Medical School, Boston, MA, USA.
  • Chao KR; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Singer-Berk M; These authors contributed equally.
  • Groopman E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • England E; Harvard Medical School, Boston, MA, USA.
  • Goodrich J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Pais L; These authors contributed equally.
  • Austin-Tse C; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • O'Heir E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Wojcik MH; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Evangelista E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Snow H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Osei-Owusu I; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Fu J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Singh M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Mostovoy Y; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Huang S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Garimella K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Kirkham SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Neil JE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Shao DD; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Walsh CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Argili E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Le C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Sherr EH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Gleeson J; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Shril S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Schneider R; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Hildebrandt F; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Sankaran VG; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Madden JA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Genetti CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Beggs AH; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Agrawal PB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Bujakowska KM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Place E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Pierce EA; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Donkervoort S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Bönnemann CG; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Gallacher L; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Stark Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Tan T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • White SM; Harvard Medical School, Boston, MA, USA.
  • Töpf A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
medRxiv ; 2023 Oct 05.
Article in En | MEDLINE | ID: mdl-37873196
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Full text: 1 Database: MEDLINE Language: En Year: 2023 Type: Article
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Full text: 1 Database: MEDLINE Language: En Year: 2023 Type: Article