Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

Structural variations (SVs), including translocations, inversions, deletions and duplications, are potentially associated with Mendelian diseases and contiguous gene syndromes. Determination of SV-related breakpoints at the nucleotide level is important to reveal the genetic causes for diseases. Who...

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Veröffentlicht in:	Journal of human genetics 2014-12, Vol.59 (12), p.649-654
Hauptverfasser:	Suzuki, Toshifumi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Saitsu, Hirotomo, Takeda, Satoru, Matsumoto, Naomichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Breakpoints Chromosome Breakpoints Chromosome Deletion Chromosome Inversion - genetics Chromosome translocations Genome, Human Genomes Genomics High-Throughput Nucleotide Sequencing Humans Inversion Sequence Analysis, DNA Translocation, Genetic - genetics Whole genome sequencing
Online-Zugang:	Volltext
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