PPT-BioCuration WG Variant Curation

Author : ivy | Published Date : 2022-06-08

Steven Harrison June 8 2017 sharrisonbwhharvardedu RASopathies Developmental Delay Cardiovascular Metabolism Hereditary Cancer Sequence Variant Interpretation

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BioCuration WG Variant Curation: Transcript

Steven Harrison June 8 2017 sharrisonbwhharvardedu RASopathies Developmental Delay Cardiovascular Metabolism Hereditary Cancer Sequence Variant Interpretation WG Harmonize recommendations for modifying ACMG guidelines. The 4C Project – A Collaboration to Clarify the Costs of Curation. APARSEN Webinar: 13 June 2013. Neil Grindley – 4C Project Coordinator. Jisc Programme Manager: Digital Preservation and Curation. Simmons College. patticondon@yahoo.com. @. patti. b. condon. Society of American Archivist Research Forum. Washington, DC. August 12, 2014. Disciplining Digital Curation?. What it means to be an emerging field. Literature Curation. Kimberly Van Auken . WormBase Consortium. Textpresso . Gene Ontology Consortium. WormBase: A Database for . C. elegans. and Other Nematodes. www.wormbase.org. Curating Diverse Data Types . Open Repositories 2012. Stacy Kowalczyk. Beth . Plale. Kavitha Chandrasekar. Yiming Sun. Agenda . Introduction to Digital Curation. Workflow Systems Overview. Workflows for Digital Curation. Break. Implementing Workflows in Trident . Deanna M. Church . Staff Scientist, NCBI. @. deannachurch. Short Course in Medical Genetics 2013. FASTQ. BAM. VCF. VCF. FASTQ. BAM. VCF. VCF. Steve Sherry, NCBI. http://. www.bioplanet.com. /. gcat. http://. jroberto@lifelongfaith.com. . www.LifelongFaith.com. Part Three. Curating Faith Formation. Developing. religious content. Designing. programming . Managing. . programming. Teaching/Facilitating. . Your . Stories. . - . and More - . . to the . Next Level. . With . Content . Curation. Melony Shemberger, . Ed.D. .. Assistant Professor of Journalism and Mass Communication. Murray State University. interface for reconciliation of species names for India.. Thomas . Vattakaven. and R. . Prabhakar. , India Biodiversity Portal, Strand Life Sciences, Bangalore, India. http://indiabiodiversity.org/ . A Plan for Curation Services: . Organization, Technologies, Communities. The Original NDIIPP Partners: . Plans for Moving Forward. Patricia Cruse, Director, UC3, CDL. The current landscape. Ever increasing number, size, and diversity of content. Hemoglobin variant trait is common and can occur in any race or ethnicity You may have heard of sickle cell trait before while not exactly the same sickle cell trait and hemoglobin variant trait are s Biocurator Working Group Presentation. 5.10.2018. ClinGen RASopathy EP Personnel. Hélène . Cavé. , . PharmD. , PhD. Mitchell Dillon, MS, CGC. Karen Gripp, MD. Jennifer A. Lee, PhD. Heather Mason-Suares PhD. Steven Harrison (. sharrison@bwh.harvard.edu. ). March 22, 2018. SVI. Updates. Reputable source (PP5/BP6) paper. Bayes paper. PVS1 (. LOF. ) recommendation. PS2/PM6 (De novo) recommendation. Reputable Source Letter to the Editor . ACMG/AMP Variant . Interpretation . guidelines . (. Richards et al 2015). Population. Data. In . silico. Data. Segregation . Data. Database. Prevalence in . affecteds. statistically increased over controls. Exomes. /WGS. Ramesh Nair. May 31, 2013. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants.

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