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Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer  Yanhong Liu, PhD, Farrah Kheradmand, MD, Caleb.

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Presentation on theme: "Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer  Yanhong Liu, PhD, Farrah Kheradmand, MD, Caleb."— Presentation transcript:

1 Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer  Yanhong Liu, PhD, Farrah Kheradmand, MD, Caleb F. Davis, PhD, Michael E. Scheurer, PhD, David Wheeler, PhD, Spiridon Tsavachidis, MS, Georgina Armstrong, MPH, Claire Simpson, PhD, Diptasri Mandal, PhD, Elena Kupert, MS, Marshall Anderson, PhD, Ming You, MD, PhD, Donghai Xiong, PhD, Claudio Pikielny, PhD, Ann G. Schwartz, PhD, Joan Bailey-Wilson, PhD, Colette Gaba, MPH, Mariza De Andrade, PhD, Ping Yang, MD, PhD, Susan M. Pinney, PhD, Christopher I. Amos, PhD, Margaret R. Spitz, MD  Journal of Thoracic Oncology  Volume 11, Issue 1, Pages (January 2016) DOI: /j.jtho Copyright © 2015 International Association for the Study of Lung Cancer Terms and Conditions

2 Figure 1 Workflow and annotation pipeline for the identification of candidate variants. Journal of Thoracic Oncology  , 52-61DOI: ( /j.jtho ) Copyright © 2015 International Association for the Study of Lung Cancer Terms and Conditions

3 Figure 2 Chromosomal position, gene structure, protein domain(s), and sequence of the candidate mutations of coiled-coil domain containing 147 (CCDC147I) and dopamine β-hydroxylase (DBH) genes. The mutations were confirmed with Sanger sequencing and are indicated with red arrows. CCDC147 includes two coiled coil regions: AA and AA. DBH consist of five domains: transmembrane (20-37 AA), DOMON (dopamine β-monooxygenase N-terminal; AA), Cu2_N (copper type II, N-terminal; AA), Cu2_C (copper type II, C-terminal; AA), and dopamine β-monooxygenase motif IX; AA). Journal of Thoracic Oncology  , 52-61DOI: ( /j.jtho ) Copyright © 2015 International Association for the Study of Lung Cancer Terms and Conditions

4 Figure 3 Venn diagrams and schematic representations of all genes with candidate mutations in the familial and sporadic lung cancer groups. (A) Shared and specific genes with candidate deleterious variants in the familial, sporadic, or both lung cancer groups. (B) The list of genes with candidate deleterious variants that were significantly associated with these four different phenotypes in previous genome-wide association studies. Journal of Thoracic Oncology  , 52-61DOI: ( /j.jtho ) Copyright © 2015 International Association for the Study of Lung Cancer Terms and Conditions

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