Respiratory genetics

Part 1 Key concepts in respiratory genetics 1 1 Overview of human genetics 3 Edwin K. Silverman and Scott T. Weiss 2 Phenotypes for human respiratory genetics 15 Augusto A. Litonjua and Scott T. Weiss 3 Testing for association in genetic studies 27 Nan Laird, Peter Kraft, Christoph Lange, and Kristel Van Steen 4 Molecular characterization of genetic variation 47 4A Sample collection and processing in human respiratory genetics 49 Benjamin A. Raby, Jody S. Sylvia, and Edwin K. Silverman 4B Genetic variation, genotyping, and sequencing 57 Benjamin A. Raby, Jody S. Sylvia, and Edwin K. Silverman 5 Bioinformatics 83 5A Public databases and SNPs 85 Ross Lazarus 5B Genomics and proteomics in lung disease: microarrays and bioinformatics issues 107 Isaac S. Kohane 6 Functional genomics 125 6A Clinical functional genomics 127 David J. Halsall and Elizabeth A. Davidson 6B Expression and purification of recombinant proteins 135 Damian C. Crowther 6C Functional characterization of a protein 141 Didier Belorgey and David A. Lomas 6D Biophysical analysis of proteins and protein–protein interactions 149 Timothy R. Dafforn 6E Crystallography, nuclear magnetic resonance, and modeling 157 Roger B. Dodd and Randy J. Read 6F Functional analysis of mutant proteins in cells 169 Paul D. Upton and Nicholas W. Morrell 7 Genomic physiology in animals 177 Steven D. Shapiro and Dawn L. DeMeo8 Pharmacogenetics 191 Kelan G. Tantisira and Jeffrey M. Drazen Part 2 Obstructive lung diseases 217 9 Asthma genetics 219 Juan C. Celedon, Benjamin A. Raby and Scott T. Weiss 10 Chronic obstructive pulmonary disease 253 Craig P. Hersh, Dawn L. DeMeo, and Edwin K. Silverman 11 Cystic fibrosis 297 Joshua Groman and Garry R. Cutting Part 3 Interstitial lung diseases 313 12 Idiopathic pulmonary fibrosis 315 Karl W. Thomas and Gary W. Hunninghake 13 Sarcoidosis 329 Paul A. Beirne, Stavros E. Anevlavis, and Roland M. du Bois Part 4 Miscellaneous pulmonary conditions 359 14 Pulmonary hypertension 361 James E. Loyd, John H. Newman, and John A. Phillips III 15 Genetics of lung cancer 393 Rebecca Suk and David C. Christiani 16 Respiratory infections 423 Michael F. Murray and Peter V. Tishler 17 Congenital, metabolic, and neuromuscular diseases 437 Natasha Y. Frank and Peter V. Tishler 18 Other rare lung diseases 459 18A Disorders of surfactant homeostasis 461 Ralph J. Panos and Bruce C. Trapnell 18B Lymphangioleiomyomatosis 479 Francis X. McCormack 18C Hermansky–Pudlak Syndrome 491 Lisa R. Young and Francis X. McCormack