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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood- Related Traits  Alanna C. Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf,

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Presentation on theme: "Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood- Related Traits  Alanna C. Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf,"— Presentation transcript:

1 Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood- Related Traits 
Alanna C. Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf, Xiaoming Liu, Christie Ballantyne, Josef Coresh, Fuli Yu, Donna Muzny, Elena Feofanova, Navin Rustagi, Richard Gibbs, Eric Boerwinkle  The American Journal of Human Genetics  Volume 100, Issue 2, Pages (February 2017) DOI: /j.ajhg Copyright © 2017 American Society of Human Genetics Terms and Conditions

2 Figure 1 Overall Analytic Approach
The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

3 Figure 2 Annotated Functional Motifs
The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

4 Figure 3 Survey of the Genomic Landscape on Chromosome 6q25.3-6q26 for Lp(a) Levels via Lachesis The sliding window trace shows the results from tests (SKAT and T5) aggregating low-frequency and rare variation within overlapping physical windows of 4 kb. Significant results are shown for regulatory domains in SLC22A3 (SKAT) and PLG (T5) and the first intron of SLC22A3 (SKAT). Results after conditioning on rs in LPA are also shown. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

5 Figure 4 Survey of the Genomic Landscape on Chromosome 1q23 for Neutrophil Count via Lachesis The sliding window trace shows the results from tests (SKAT and T5) aggregating low-frequency and rare variation within overlapping physical windows of 4 kb. Significant results are shown for regulatory domains in DARC (T5 and SKAT) and CADM3 (SKAT). Results after conditioning on rs in DARC are also shown. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions


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