Human Telomere Structure and Biology
Harold Riethman .............................................. 1
Infectious Disease in the Genomic Era
Xiaonan Yang, Hongliang Yang, Gangqiao Zhou,
and Guo-Ping Zhao ........................................... 21
ENU Mutagenesis, a Way Forward to Understand Gene Function
Abraham Acevedo-Arozena, Sara Wells, Paul Potter, Michelle
Kelly, Roger D. Cox, and Steve D.M. Brown ................... 49
Clinical Utility of Contemporary Molecular Cytogenetics
Bassem A. Bejjani and Lisa G. Shaffer ....................... 71
The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases
Anthony Antonellis and Eric D. Green ........................ 87
A Bird's-Eye View of Sex Chromosome Dosage Compensation
Arthur P. Arnold, Yuichiro Itoh, and Esther Melamed ........ 109
Linkage Disequilibrium and Association Mapping
B.S. Weir .................................................. 129
Positive Selection in the Human Genome: From Genome Scans
to Biological Significance
Joanna L. Kelley and Willie J. Swanson ..................... 143
The Current Landscape for Direct-to-Consumer Genetic
Testing: Legal, Ethical, and Policy Issues
Stuart Hogarth, Gail Javitt, and David Melzer .............. 161
Transcriptional Control of Skeletogenesis
Gerard Karsenty ............................................ 183
A Mechanistic View of Genomic Imprinting
Ky Sha ..................................................... 197
Phylogenetic Inference Using Whole Genomes
Bruce Rannala and Ziheng Yang .............................. 217
Transgenerational Epigenetic Effects
Neil A. Youngson and Emma Whitelaw ......................... 233
Evolution of Dim-Light and Color Vision Pigments
Shozo Yokoyama ............................................. 259
Genetic Basis of Thoracic Aortic Aneurysms and Dissections:
Focus on Smooth Muscle Cell Contractile Dysfunction
Dianna M. Milewicz, Dong-Chuan Guo, Van Tran-Fadulu,
Andrea L. Lafont, Christina L. Papke, Sakiko Inamoto,
and Hariyadarshi Pannu ..................................... 283
Cohesin and Human Disease
Jinglan Liu and Ian D. Krantz .............................. 303
Genetic Predisposition to Breast Cancer: Past, Present, and
Future
Clare Turnbull and Nazneen Rahman .......................... 321
From Linkage Maps to Quantitative Trait Loci: The History
and Science of the Utah Genetic Reference Project
Stephen M. Prescott, Jean Marc Lalouel, and Mark Leppert ... 347
Disorders of Lysosome-Related Organelle Biogenesis: Clinical
and Molecular Genetics
Marjan Huizing, Amanda Helip-Wooley, Wendy Westbroek,
Meral Gunay-Aygun, and William A. Gahl ..................... 359
Next-Generation DNA Sequencing Methods
Elaine R. Mardis ........................................... 387
African Genetic Diversity: Implications for Human
Demographic History, Modern Human Origins, and
Complex Disease Mapping
Michael C. Campbell and Sarah A. Tishkoff .................. 403
Indexes
Cumulative Index of Contributing Authors, Volumes 1-9 ......... 435
Cumulative Index of Chapter Titles, Volumes 1-9 ............... 438
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