PDF-ClinGen Sequence Variant Interpretation Recommendation for de novo Cri

Version 11 Working Group PagehttpsclinicalgenomeorgworkinggroupssequencevariantinterpretationDate Approved March 18 2018Changes from v1 Clarified that confirmedassumed is with regards to par. 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. 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. Novo Precision Team. 2016. Objective. Understand Value Analysis / Value Engineering (VA/VE) opportunity that in certain applications will benefit to your supply chain: . Our consultative approach can help you identify where this can apply. 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.. 2 year-old female referred for developmental delay, dysmorphic features (unspecified), and history of ventricular septal defect; inheritance unknown. Clinical Information. arr. [hg19] 9q31.2 (108,597,937-111,269,478) x 1. 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?. Splice Predictors. Marcy E. Richardson. April 25, 2019. Disclaimer. I am a full-time salaried employee of Ambry Genetics. I am the coordinator for ClinGen Hereditary Breast, Ovarian and Pancreatic (HBOP) Cancer VCEP (not really a disclaimer-more-so a plug for future . 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. Lian Yang. 2. ; . Baozhen Shan. 1. ; . Bin Ma. 2. 1. Bioinformatics Solutions Inc, Canada . 2. University of Waterloo, Canada. Problem. . Complete protein sequence coverage. antibody confirmation. 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. 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. An Introduction to Computers and Informatics in the Health Sciences. Sequencing Intro:. Common File Formats and Visualization Software. Christopher Taylor. Associate Professor. Department of Microbiology,. 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: .