PPT-NGS Workshop Variant Calling and Structural Variants from

Exomes WGS Ramesh Nair May 31 2013 Outline Types of genetic variation Framework for variant discovery Variant calling methods and variant callers Filtering of variants Structural variants. “Now . the word of the LORD came to Jonah the son of . Amittai. , saying, . ‘Arise. , go to Nineveh, that great city, and call out against it, for their evil has come up before me. .’” . (. Jonah 1.1-2; ESV). Andrew Morris. Advanced Topics in GWAS. Toronto, 30 May 2012. Introduction. GWAS have been successful in detecting . novel loci for complex traits:. typically characterised by common variants of modest effect;. 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. Eric T. Weimer, Ph.D., D(ABMLI). Assistant Professor, Pathology and Laboratory Medicine. Associate Director, Clinical Flow Cytometry, HLA, and Immunology . Laboratories. CONFLICT OF . INTEREST. I . have financial relationship(s) with: . 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 . 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.. 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?. Presented by Derek Bickhart. Presentation Outline. Variant classification and detection. Theory on read structure and bias. Simulations and real data. Genetic . Variation. Single nucleotide variations – SNP (human . Vladimir Teif. Intro to NGS analysis. Proficio. course 2020. NGS techniques vs. NGS applications. NGS techniques. : . how. to sequence DNA (or RNA). (covered in lecture 1; funny recap in this video. Ramesh Nair. 9/12/2012. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. 9/12/2012. Variant Calling. Sequencing. . Paolo Aretini . Senior . Researcher. Fondazione Pisana per la Scienza. School on . Scientific. Data Analysis,. 25-28 . November. 2019. Scuola Normale Superiore . Outline. Introduction. Short listed in Phase . I. analysis. 69 . variants. 993453 . coding variants. Short listed in Phase . II. analysis. Short listed in Phase . III. analysis. 45 . variants. 60 . variants. de novo. 67 . Vojtěch Bystrý. CEITEC Bioinformatics Core Facility. CEITEC research areas. FI MUNI Bioinformatics Seminar. 2. Bioinformatics CF mission . Primary NGS analysis. S. econdary standard NGS analysis. Custom (project specific) analysis.