Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson, Daniel

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. [electronic resource] - Human mutation 02 2017 - 180-192 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

1098-1004

10.1002/humu.23146 doi


Base Sequence
Chromosome Breakage
Chromosome Mapping
Comparative Genomic Hybridization
DNA Copy Number Variations
Female
Genetic Association Studies
Genomics--methods
Genotype
Homologous Recombination
Humans
In Situ Hybridization, Fluorescence
Karyotype
Male
Phenotype
Translocation, Genetic
Whole Genome Sequencing