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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier, M A; Etin, D; Trifonov, S I; Evdokimova, V N; Ulitin, V; Shen, J; Kokorev, A; Ghazani, A A; Chekaluk, Y; Albertyn, Z; Giersch, A; Morton, C C; Abraamyan, F; Bendapudi, P K; Sunyaev, S; Krier, J B.
Affiliation
  • Bouzinier MA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: michael_bouzinier@harvard.edu.
  • Etin D; Forome Association, Boston, MA, USA; Oracle Corporation, USA. Electronic address: dmitry.etin@forome.org.
  • Trifonov SI; Forome Association, Boston, MA, USA.
  • Evdokimova VN; Forome Association, Boston, MA, USA; SBCS Scientific Biomedical Consulting Services, London, UK.
  • Ulitin V; Forome Association, Boston, MA, USA.
  • Shen J; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kokorev A; ITMO University, St. Petersburg, Russian Federation.
  • Ghazani AA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Brigham Genomic Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Chekaluk Y; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Albertyn Z; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Giersch A; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Morton CC; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Manchester Centre for Audiology and
  • Abraamyan F; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bendapudi PK; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center, Boston, MA, USA; Division of Hematology and Blood Transfusion Service, Massachusetts General Hospital, Boston, MA, USA.
  • Sunyaev S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
  • Undiagnosed Diseases Network; Undiagnosed Diseases Network, NIH, USA.
  • Brigham Genomic Medicine; Brigham Genomic Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • SEQuencing A Baby For An Optimal Outcome; SEQuencing a Baby for an Optimal Outcome, Brigham and Women's Hospital, Boston, MA, USA.
  • Quantori; Quantori, Cambridge, MA, USA.
  • Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: jkrier@bwh.harvard.edu.
J Biomed Inform ; 133: 104174, 2022 09.
Article in En | MEDLINE | ID: mdl-35998814
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Software / Genomics Type of study: Prognostic_studies Language: En Journal: J Biomed Inform Journal subject: INFORMATICA MEDICA Year: 2022 Document type: Article Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Software / Genomics Type of study: Prognostic_studies Language: En Journal: J Biomed Inform Journal subject: INFORMATICA MEDICA Year: 2022 Document type: Article Country of publication: