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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.
Danis, Daniel; Jacobsen, Julius O B; Balachandran, Parithi; Zhu, Qihui; Yilmaz, Feyza; Reese, Justin; Haimel, Matthias; Lyon, Gholson J; Helbig, Ingo; Mungall, Christopher J; Beck, Christine R; Lee, Charles; Smedley, Damian; Robinson, Peter N.
Afiliación
  • Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
  • Jacobsen JOB; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
  • Balachandran P; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
  • Zhu Q; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
  • Yilmaz F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
  • Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA.
  • Haimel M; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Lyon GJ; St. Anna Children's Cancer Research Institute, Vienna, Austria.
  • Helbig I; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Mungall CJ; Present address: Global Computational Biology and Digital Sciences, Boehringer Ingelheim Regional Center Vienna GmbH & Co KG, 1120, Vienna, Austria.
  • Beck CR; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
  • Lee C; Biology PhD Program, The Graduate Center, The City University of New York, New York, USA.
  • Smedley D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Robinson PN; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Genome Med ; 14(1): 44, 2022 04 28.
Article en En | MEDLINE | ID: mdl-35484572
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Genómica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Genómica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos