Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

• Published in: American journal of human genetics Vol. 88; no. 4; pp. 469 - 481
• Main Authors: Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 08.04.2011; Cell Press; Elsevier
• Subjects: Biological and medical sciences; Cells; Chromosome Inversion; Chromosomes; Chromosomes, Human - genetics; Computational Biology; Deoxyribonucleic acid; Diagnostic tests; DNA; DNA Barcoding, Taxonomic; DNA Breaks; Female; Fundamental and applied biological sciences. Psychology; Gene Library; Gene Rearrangement; General aspects. Genetic counseling; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genome-Wide Association Study; Humans; Interspersed Repetitive Sequences; Karyotyping; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Oligonucleotide Array Sequence Analysis; Polymorphism; Sequence Analysis, DNA - methods; Translocation, Genetic; Human; Nucleotide sequence; Chromosome; Genetics; Strategy; Diagnosis; Detection; Sequencing

The contribution of balanced chromosomal rearrangements to complex disorders remains unclear because they are not detected routinely by genome-wide microarrays and clinical localization is imprecise. Failure to consider these events bypasses a potentially powerful complement to single nucleotide pol...