PPT-Analysis of imputed rare variants

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. 6 December 2012. Introduction. I. mputation describes the process of predicting genotypes that have not been directly typed in a sample of individuals:. m. issing genotypes at typed variants;. genotypes at un-typed variants that are present in an external high-density “reference panel” of phased . Lipika. Ray. 4th . June 2010. Heritability:. Phenotype (P) = genotype (G) + environmental factors (E). (observed) (unobserved) (unobserved). Variances:. Heritability is defined as ratio of variances, by expressing the proportion of the phenotypic variance that can be attributed to variance of genotypic values:. sibpair. test for rare variant . association. Sebastian Zöllner. University of Michigan. . . . Acknowledgements. Matthew . Zawistowski. Keng. -Han Lin. Mark . Reppell. DISEASES. “ARE WE READY FOR THE CHANGE THAT WE NEED TO FIND EFFECTIVE TREATMENTS FOR ORPHAN DISEASE?”. 2. YES!. Rare disease is very ‘popular’!. Rare disease <200,000 Americans have disease. Group A1. Caroline . Kissel. , Meg . Sabourin. , . Kaylee Isaacs, Alex Maeder. Introduction. Mutations that occur in DNA synthesis can result in a mutated gene that deters or completely denatures the protein it codes for . Ankit Mehta. 1. , Tyson R . Finlinson. 1. , Bradley . Ritland. 1. , Lisa H . Lowe. 1,2. , Kay L . North. 1,2. 1. UMKC School of Medicine, . Kansas City, MO . 2. Children’s . Mercy Hospitals and Clinics, Kansas City, MO. Harmonized LASI-DAD g2agingorgx0000x0000 x Michael Adams. 1. , James Evans. 1. , Gail Henderson. 2. , Jonathan S. Berg. 1. . 1. Department of Genetics, UNC-Chapel . Hill 2. . . Department of Social Medicine, UNC-Chapel Hill. Introduction. Genomic screening of the general population for preventable, monogenic disease has potential to decrease morbidity and . Presenter: Scarlett Varney. Authors: Scarlett Varney, Kevin Batcher, Leigh Anne Clark, Robert . Rebhun. , Danika . Bannasch. Image from Tarah Schwartz, . The Complete Guide to Poodles. Why does size matter?. Sample & Methods. . 100 index cases (IC): 87 adults and 13 children; 8 were severe forms. . Identifies variants were traced in 36 relatives. NGS panel: LDLR, APOB, PCSK9, LDLRAP1 and APOE . (. Page 53 of 60 Ralf‐Dieter Hilgers*, Franz KönigDepartment of Medical Statistics, RWTH Universit Aachen, Pauwelstr 30, D‐ 52074 Aachen, Germany Dr. RalfDieter Hilgers, Department of Medical Statis Inês Barroso. Joint Head of Human Genetics. Metabolic Disease Group Leader. Wellcome. Trust Sanger Institute. 1. Objectives. Why perform meta-analysis?. How? . What are the issues to consider?. What can you gain?. 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 . 11% of the edited variants were insertions and 4% were deletions.. RESULTS. Chromosome 29 was used to compare 1000 Bull Genomes Project run7 to local AGIL data.. 1000 Bull Genomes Project run 7 identified 149,684 variants on chromosome 29.