The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

Structural variation, composed of balanced and unbalanced genomic rearrangements, is an important contributor to human genetic diversity with prominent roles in somatic and congenital disease. At the nucleotide level, structural variants (SVs) have been shown to frequently harbor additional breakpoi...

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Veröffentlicht in:	American journal of human genetics 2019-04, Vol.104 (4), p.565-577
Hauptverfasser:	Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Aberrations Chromothripsis Congenital Abnormalities - genetics Cytogenetic Analysis Gene Rearrangement Genome, Human Genomics Humans Karyotyping Oligonucleotide Array Sequence Analysis Phenotype Review
Online-Zugang:	Volltext
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