Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing.
Wei ShenChristian N PaxtonPhilippe SzankasiMaria LonghurstJonathan A SchumacherKimberly A FrizzellShelly M SorrellsAdam L ClaytonRakhi P JattaniJay L PatelReha ToydemirTodd W KelleyXinjie XuPublished in: Journal of clinical pathology (2017)
We describe a genome-wide SNP sequencing backbone which allows for sensitive detection of genome-wide CNVs and CN-LOH using NGS. This proof-of-principle study has demonstrated that this strategy can provide more comprehensive genetic profiling for patients with myeloid malignancies using a single assay.