PPT-Variant Calling

Chris Fields MayoIllinois Computational Genomics Workshop June 19 2017 Upfront acknowledgments Many figuresslides come from GATK Workshop slides httpwwwbroadinstituteorggatkguideeventsid. Sample & Assay Technologies Ingenuity Variant Analysis 03/2014 Variant Analysisof disease biology. This Quick-Start Guide summarizes how to access the online application, upload data files, and perfo Variant Calling and Structural Variants from . Exomes. /WGS. Ramesh Nair. May 30, 2014. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. 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. Assessment. (Boston College & University of Michigan). Gabor Marth, Goncalo Abecasis, PIs. Informatics challenges for genomic analysis. Tool . building. Facilitating . analysis. . Widening. accessibility. Lyrics: Frances J. Crosby. Scripture:Hebrews. 4:7. Meter: 10.8.10.7 . R PD. Jesus is tenderly calling you home-. Calling today, calling today,. Why from the sunshine of love will you roam. Farther and farther away?. 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 . Ephesians 4:1-3. Worthy: “Equal Weight”-Calling. Ephesians 4:1. 2 Thess. 2:14. Worthy: “Equal Weight”-Calling. Heavenly Calling . (Heb. 3:1). Ephesians 4:1. 2 Thess. 2:14. Worthy: “Equal Weight”-Calling. Leaving one's calling card at a friend's home was a way to express appreciation for a recent dinner party, offer condolences for an illness, or simply to say hello. If the recipient “wasn't home” a servant would accept a calling card or the card would be left in a silver tray in the entrance hall. A tray full of calling cards was like social media for the Victorian era, a way to advertise who was in one's extended social circle. Often the cards of the wealthiest or most influential people were purposefully displayed at the top of the stack to impress future visitors.. Tutorial. ICHG 2011. Montreal. , Quebec, Canada. October 13, 2011. Intro. International project to construct a foundational data set for human genetics. Discover virtually. all common human variations by investigating many genomes at the base pair level. -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 Introduction. This slide presentation covers several topics pertaining to Variant classification, reclassification and the . V. ariant . C. lassification . P. rogram (VCP). You may view the presentation in its entirety or click on one of the topics below to go directly to the relevant slides.. 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?. 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.