Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer

[1]  R. Elston,et al.  Increased familial risk for lung cancer. , 1986, Journal of the National Cancer Institute.

[2]  Terri K. Attwood,et al.  PRINTS and its automatic supplement, prePRINTS , 2003, Nucleic Acids Res..

[3]  D. Corry,et al.  An Immune Basis for Lung Parenchymal Destruction in Chronic Obstructive Pulmonary Disease and Emphysema , 2004, PLoS medicine.

[4]  D. Gudbjartsson,et al.  Familial risk of lung carcinoma in the Icelandic population. , 2004, JAMA.

[5]  Marshall W. Anderson,et al.  A major lung cancer susceptibility locus maps to chromosome 6q23-25. , 2004, American journal of human genetics.

[6]  M. Hutz,et al.  Polymorphisms in the DBH and DRD2 gene regions and smoking behavior , 2006, European Archives of Psychiatry and Clinical Neuroscience.

[7]  Robert D. Finn,et al.  Pfam: clans, web tools and services , 2005, Nucleic Acids Res..

[8]  Mike Tyers,et al.  BioGRID: a general repository for interaction datasets , 2005, Nucleic Acids Res..

[9]  R. D'Agostino,et al.  A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study , 2007, BMC Medical Genetics.

[10]  H. Coxson,et al.  Antielastin autoimmunity in tobacco smoking–induced emphysema , 2007, Nature Medicine.

[11]  G. O'Connor,et al.  Framingham Heart Study genome-wide association: results for pulmonary function measures , 2007, BMC Medical Genetics.

[12]  Marshall W. Anderson,et al.  Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. , 2008, Journal of the National Cancer Institute.

[13]  Y. Shugart,et al.  A community-based study of cigarette smoking behavior in relation to variation in three genes involved in dopamine metabolism: Catechol-O-methyltransferase (COMT), dopamine beta-hydroxylase (DBH) and monoamine oxidase-A (MAO-A). , 2008, Preventive medicine.

[14]  M. Spitz,et al.  Development and Validation of a Lung Cancer Risk Prediction Model for African-Americans , 2008, Cancer Prevention Research.

[15]  H. Coxson,et al.  Lung Myeloid Dendritic Cells Coordinately Induce TH1 and TH17 Responses in Human Emphysema , 2009, Science Translational Medicine.

[16]  M. Sternberg,et al.  Protein structure prediction on the Web: a case study using the Phyre server , 2009, Nature Protocols.

[17]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[18]  E. Diamandis,et al.  Nidogen-2: a new serum biomarker for ovarian cancer. , 2010, Clinical biochemistry.

[19]  V. Salomaa,et al.  Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia , 2010, Nature Genetics.

[20]  Jonathan C. Cohen,et al.  Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. , 2010, The New England journal of medicine.

[21]  A. Hofman,et al.  Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function , 2010, Nature Genetics.

[22]  Ming D. Li,et al.  Genome-wide meta-analyses identify multiple loci associated with smoking behavior , 2010, Nature Genetics.

[23]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[24]  D. Conti,et al.  Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies , 2011, Genetic epidemiology.

[25]  C. Lamina.  Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits? , 2011, BMC proceedings.

[26]  Aleksandar Milosavljevic,et al.  An integrative variant analysis suite for whole exome next-generation sequencing data , 2012, BMC Bioinformatics.

[27]  R. Irizarry,et al.  NID2 and HOXA9 Promoter Hypermethylation as Biomarkers for Prevention and Early Detection in Oral Cavity Squamous Cell Carcinoma Tissues and Saliva , 2011, Cancer Prevention Research.

[28]  J. Hokanson,et al.  Genome-wide association study of smoking behaviours in patients with COPD , 2012 .

[29]  Joshua M. Korn,et al.  Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease , 2011, Nature Genetics.

[30]  P. Prorok,et al.  Lung cancer risk prediction: Prostate, Lung, Colorectal And Ovarian Cancer Screening Trial models and validation. , 2011, Journal of the National Cancer Institute.

[31]  M. Rieder,et al.  Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis , 2012, Nature Genetics.

[32]  H. Hakonarson,et al.  Two-Stage Extreme Phenotype Sequencing Design for Discovering and Testing Common and Rare Genetic Variants: Efficiency and Power , 2012, Human Heredity.

[33]  Q. Wang,et al.  Clinical significance of decreased nidogen‐2 expression in the tumor tissue and serum of patients with hepatocellular carcinoma , 2012, Journal of surgical oncology.

[34]  T. Kosten,et al.  Association of functional dopamine-beta-hydroxylase (DBH) 19bp insertion/deletion polymorphism with smoking severity in male schizophrenic smokers , 2012, Schizophrenia Research.

[35]  B. Qian,et al.  Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia , 2012, Nature Genetics.

[36]  A. López-Guillermo,et al.  POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia , 2013, Nature Genetics.

[37]  J. Lupski,et al.  Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy , 2013, Genome Medicine.

[38]  Simon White,et al.  Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline , 2014, BMC Bioinformatics.

[39]  J. Shendure,et al.  A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.

[40]  Thomas M. Keane,et al.  POT1 loss-of-function variants predispose to familial melanoma , 2014, Nature Genetics.

[41]  R. Gibbs,et al.  Germline mutations in shelterin complex genes are associated with familial glioma. , 2015, Journal of the National Cancer Institute.