Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira, Nara L M

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