PPT-Neurodevelopmental CDWG Update: The curation of a complicated gene-disease relationship

RELN On behalf of the IDAutism GCEP 592019 Neurodevelopmental Clinical Domain Working Group CDWG Chairs Mike Friez Heather Mefford Scott Meyers ClinGen PI Liaison Christa Lese Martin. budding yeast as a model for eukaryotic biology. Stacia R. Engel. Stanford University. Challenge to Biocurators. Promote ways in which [. your_organism. ] . and . r. esearch on . [. your_organism. ] . 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 . 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 Steven Harrison. June 8 2017. sharrison@bwh.harvard.edu. RASopathies . Developmental . Delay. Cardiovascular. Metabolism. Hereditary Cancer. Sequence Variant Interpretation . WG. Harmonize recommendations for modifying ACMG guidelines. 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. 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. Batten disease (Neuronal Ceroid Lipofuscinoses) is an inherited disorder of the nervous system that usually manifests itself in childhood. Batten disease is named after the British paediatrician who Department of Biology and Department of Bioengineering, The University of Pennsylvania, Philadelphia, PA*Authors for correspondence (e-mail: zhqi@sas.upenn.edu; markjo@seas.upenn.edu) Hunting for the Consultant Nephrologist, Exeter Kidney Unit. 15/05/21. Most people with . HNF1B. whole gene deletion have large 17q12 deletion. 17q12 deletion not initially thought to be associated with neurodevelopmental disorders .