PPT-ClinGen RASopathy EP Gene Curation

Biocurator Working Group Presentation 5102018 ClinGen RASopathy EP Personnel Hélène Cavé PharmD PhD Mitchell Dillon MS CGC Karen Gripp MD Jennifer A Lee PhD Heather MasonSuares PhD. 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. 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 . 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. Nikos. . Kyrpides. Genome . Biology . Program (GBP). DOE Joint Genome institute. IMG. Genes. Genomes. Functions. Metadata. Clusters. SNPs. Proteomics. Regulons. Transcriptomes. IMG Systems Data Types. Genome curation guide Empowering the Medfly community by Alexie Papanicolaou, Monica Poelchau , Monica Munoz-Torres This document is aimed for curators of all levels. sets out the case for community curation in genomics -Version 11 Working Group Pagehttps//clinicalgenomeorg/working-groups/sequence-variant-interpretation/Date Approved March 18 2018Changes from v1 Clarified that confirmed/assumed is with regards to par dn. ). 5-year-old female with developmental delay; . de novo. Note: These example CNVs have been created for educational purposes in order to ensure that each evidence type in the scoring matrices are utilized across the entire set (no single CNV will necessarily cover all evidence types).  These are not actual CNVs that have been observed in a laboratory setting.  As such, please evaluate the coordinates as given, regardless of other considerations that may apply in the actual clinical laboratory setting.  For example, if your CNV is below the size cutoff your laboratory uses on a daily basis, please disregard this for the sake of this exercise and evaluate the content within the provided coordinates. Assume that the CNV is technically valid.. 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 . Review of experimental evidence scoring. Biocurator. WG call. January 11, 2018. Marina . DiStefano. , Jenny Goldstein, Jen . McGlaughon. , Courtney . Thaxton. In the GCI. Function: Biochemical function. 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. 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.