PPT-BioCuration Call: Sequence Variant Interpretation WG Update

Steven Harrison sharrisonbwhharvardedu March 22 2018 SVI Updates Reputable source PP5BP6 paper Bayes paper PVS1 LOF recommendation PS2PM6 De novo recommendation Reputable Source Letter to the Editor . : 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. Constructing Their Own Knowledge to Understand . Mutation. Lauren Schultz, . Trista. . Strauch. , . Tasia. Taxis, . Lindsey . Veautour . Facilitator: John Merrill. Background. Please respond as a student in intro bio. of the “standard”. Bob Milius, PhD. Bioinformatics Research. NMDP. How to implement the MIBBI?. The . MIBBI. . is set of. guiding principles &. best practices. By itself,. It is not a specification that a programmer can implement. . Updates and Upcoming Collaborations. Agenda . COGR overview . U. pdates. Current variant numbers. BRCA Manuscript. 4. Discussion. COGR Objectives. To create Canada’s unified, open-access, clinical-grade genetic database using a commonly shared platform. NGS/. MPS. Precourse. . materials. Yonglan Zheng. (yzheng3@uchicago.edu). 2017.6.10. Precourse. . materials. General NGS variant calling workflow . [slide#3. ]. GATK . Best Practice as an . example. of the “standard”. Bob Milius, PhD. Bioinformatics Research. NMDP. How to implement the MIBBI?. The . MIBBI. . is set of. guiding principles &. best practices. By itself,. It is not a specification that a programmer can implement. . KH Wong. RNN, LSTM and sequence-to-sequence model v.8b. 1. Introduction. Neural Machine translation. Learn by training. E.g. English-French translator development . Need a lot of English – fence sentence pairs as training data. -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 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. Jessica Mester, MS, LCGC. Disclosure. I . am an employee of . GeneDx. , Inc., a wholly-owned subsidiary of OPKO Health, Inc.. Overview. Effective use of variant nomenclature in your lit search. Where to look?. Atul Kothari, MD FIDSA. Medical Director Healthcare Associated Infections Program. Associate Medical Director Infectious Diseases Branch. Disclosures. Off label use of some FDA EUA products will be discussed. ACMG/AMP Variant . Interpretation . guidelines . (. Richards et al 2015). Population. Data. In . silico. Data. Segregation . Data. Database. Prevalence in . affecteds. statistically increased over controls. 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. Harriet Feilotter, PhD, FCCMG, FACMG. Professor, Dept of Pathology and Molecular Medicine, Queen’s U. Director, Molecular Genetics, KHSC. 2. Disclosures. I have the following financial relationships to disclose: .