Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. [electronic resource]
- Genome research Oct 2011
- 1720-7 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1549-5469
10.1101/gr.122986.111 doi
Adult Base Sequence Campomelic Dysplasia--genetics Chromosome Breakpoints Chromosome Mapping Chromosomes, Human Cleidocranial Dysplasia--genetics Core Binding Factor Alpha 1 Subunit--genetics Craniofacial Abnormalities--genetics Female High-Throughput Nucleotide Sequencing--methods Humans Male Molecular Sequence Data Pedigree SOX9 Transcription Factor--genetics Translocation, Genetic