| چکیده |
What have studies of genomic disorders taught us about our genome? / Alexandra D. Simmons, Claudia M.B. Carvalho,and James R. Lupski -- Microdeletion and microduplication syndromes / Lisenka E.L.M. Vissers and Paweł Stankiewicz -- Structural genomic variation in intellectual disability / Rolph Pfundt and Joris A. Veltman -- Copy number variation and psychiatric disease risk / Rebecca J. Levy ... [et al.] -- Detection and characterization of copy number variation in autism spectrum disorder / Christian R. Marshall and Stephen W. Scherer -- Structural variation in subtelomeres / M. Katharine Rudd -- Array-based approaches in prenatal diagnosis / Paul D. Brady ... [et al.] -- Structural variation and its effect on expression / Louise Harewood, Evelyne Chaignat, and Alexandre Reymond -- Challenges of studying complex and dynamic regions of the human genome / Edward J. Hollox -- Population genetic nature of copy number variation / Per Sjödin and Mattias Jakobsson -- Detection and interpretation of genomic structural variation in mammals / Ira M. Hall and Aaron R. Quinlan -- Structural genetic variation in the context of somatic mosaicism / Jan P. Dumanski and Arkadiusz Piotrowski -- Online resources for genomic structural variation / Tam P. Sneddon and Deanna M. Church -- Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data / Laura Winchester and Jiannis Ragoussis -- Targeted screening and validation of copy number variations / Shana Ceulemans, Karlijn van der Ven, and Jurgen Del-Favero -- High-resolution copy number profiling by array CGH using DNA isolated from formalin-fixed, paraffin-embedded tissues / Hendrik F. van Essen and Bauke Ylstra -- Characterizing and interpreting genetic variation from personal genome sequencing / Anna C.V. Johansson and Lars Feuk -- Massively parallel sequencing approaches for characterization of structural variation / Daniel C. Koboldt ... [et al.].
|
