PPT-BioCuration WG Variant Curation

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. Thanks for inviting me …. Managing, archiving, curating, preserving and sustaining digital [research] outputs …. neil.grindley@jisc.ac.uk. Head of Resource Discovery & 4C Project Coordinator. Ilana Snyder. Monash University. Art Gallery of South Australia. Turner self- portrait. Heide Museum of Modern Art. Samstag Museum of Art. Laurie Anderson & Lou Reed. Curation is used in . 4. fields of inquiry. : comparative, consensus. gene structure annotation. Will McKerrow. Ian H. Holmes. , UC Berkeley. Aaron J. Mackey. University of Virginia. structural gene evidence. manual curation is not practical, nor cost-effective, for each new genome to be annotated. 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. professions. Alyce L. Scott. Lecturer, San Jose State University. SAA: SJSU Student Chapter, March 16, 2016. Professor . Alyce. Scott. Alyce. Scott . is a lecturer at the School of Information, San José State University. Ms. Scott has an M.L.I.S. from the University of Illinois at Urbana-Champaign. She has worked in a variety of library settings, including developing an electronic reserves program for . 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. ZOOM ON. . GATK. Cedric Notredame. Adapted from . Yannick. . Boursin. Genetic. . variations. Variations . at the (A) . nucleotide level. . and. (B) . structural level. (C) Single nucleotide . polymorphism . Update. Biocurator. Call. 5.11.17. Marina DiStefano, Ph.D.. Sarah Hemphill, B.S.. Brandon Cushman, B.S.. Goals of the HL . CDWG. Outreach. Identify experts and resources around the globe. Facilitate submission of existing variants into . Marina DiStefano, Ph.D.. Clinical Molecular Genetics Fellow, . Harvard Medical School Genetics Training Program. Biocurator Call, 1.10.19. Outline. Why does transcript curation matter? Examples from Hearing Loss. 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 . RELN). On behalf of the. ID/Autism GCEP. 5/9/2019. Neurodevelopmental Clinical Domain Working Group. CDWG Chairs: Mike . Friez. , Heather . Mefford. , Scott Meyers. ClinGen. PI Liaison: Christa Lese Martin.