'Rare variants' presentation slideshows

Human genetic variation: Recombination, rare variants and selection

702 views • 55 slides

Genome-wide association studies (GWAS)

Genome-wide association studies (GWAS). Thomas Hoffmann. Outline. GWAS Overview Design Microarray Sequencing Which to use and other censiderations QC Analysis Population stratification adjustment Imputation Replication & Meta-analysis Limitations, missing heritability, and beyond.

2.58k views • 55 slides

Electronic Medical Records and Genomics ( eMERGE ) Network Phase III

Electronic Medical Records and Genomics ( eMERGE ) Network Phase III. Concept Clearance . Teri Manolio, M.D., Ph.D. and Rongling Li, M.D., Ph.D. National Advisory Council for Human Genome Research May 19, 2014. te. Electronic Medical Records and Genomics ( eMERGE ) Network. GWAS Discovery.

857 views • 54 slides

Eternal Life: Cell Immortalization and Tumorigenesis

Eternal Life: Cell Immortalization and Tumorigenesis. Normal cell populations register the number of cell generations separating them from their ancestors in the early embryo. Normal cells have a limited proliferative potential.

1.01k views • 40 slides

Gil McVean

Gil McVean. What makes us different?. Image: Wikimedia commons. The genetic axes. Strong. Genetic disorders. Cancer. Inherited. Somatic. Complex disease. Aging. Weak. Images:Wikimedia commons. Characterising individual genomes. Image: Wikimedia commons. Image: Wikimedia commons.

546 views • 35 slides

Analysis of imputed rare variants

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;

462 views • 32 slides

Genetic A ssociation Analysis --- impact of NGS

Genetic A ssociation Analysis --- impact of NGS. One fundamental goal of genetics studies is to identify genetic variants causing phenotypic variations What does NGS have to offer?. Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

406 views • 30 slides

Rare variant analysis in large-scale association and sequencing studies

Rare variant analysis in large-scale association and sequencing studies. Eleftheria Zeggini eleftheria@sanger.ac.uk. Missing heritability in complex traits . Interactions Structural variation Epigenetics and environment Thousands of very small effects

476 views • 28 slides

Translational genomics research space

396 views • 24 slides

Statistical Methods for Rare Variant Association Test Using Summarized Data

Statistical Methods for Rare Variant Association Test Using Summarized Data. Qunyuan Zhang Ingrid Borecki, Michael A. Province Division of Statistical Genomics. Next generation sequencing => rare variants Two types of data. Motivation. Summarized level. Pooled DNA sequencing

281 views • 20 slides

478 views • 20 slides

Detecting Gene-Environment and Gene-Gene Interactions through Endophenotypes

Detecting Gene-Environment and Gene-Gene Interactions through Endophenotypes. Guan-Hua Huang and Shih-Kai Chu National Chiao Tung University TAIWAN.

499 views • 20 slides

What are the next steps in understanding the role of the genome in IBD?

What are the next steps in understanding the role of the genome in IBD?. Judy H. Cho Icahn School of Medicine in New York Dec 2013. Concepts. Common variants and systems biology Less common variants and direct therapeutic targeting Functional biomarkers and Mendelian randomization .

281 views • 18 slides

The effect of Next - Generation Sequencing technology on complex trait research

The effect of Next - Generation Sequencing technology on complex trait research. Challenge analysis. Presented by December 10, 2013. Ladang Auxane Mombaerts Laurent Uyttendaele Vincent. TABLE OF CONTENTS. Introduction Challenge analysis

317 views • 18 slides

Atypical manifestation of hepatitis A

Atypical manifestation of hepatitis A. REGISTRAR: DR GS HURTER CONSULTANT: DR JCJ VAN VUUREN FIRM: 3 MILITARY HOSPITAL. Patient L: Case Discussion. 35 year old female from Bloemfontein referred by local sickbay on 15/02/10:

257 views • 16 slides

HLA Analysis and Next Generation Sequencing

NGS and EFI, May 14, 2013. HLA Analysis and Next Generation Sequencing. Henry Erlich, Ph.D. Cherie Holcomb, Ph.D. Roche Molecular Systems. picture placeholder. Library preparation strategies for NGS for HLA typing.

361 views • 7 slides