SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype
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DOI: 10.1186/s13052-025-01987-9
Abstract: Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the prenatal period,… read more here.
Keywords: genomic complexity; discloses genomic; svseq discloses; complexity different ... See more keywords