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Affymetrix CytoScan 750K data for validation of the BoBs/CNV-seq comparison study

ABSTRACT: BACs-on-Beads (BoBs) assay and Copy Number Variation Sequencing (CNV-Seq) are two frequently used methods in today’s prenatal diagnosis. Several researches studies were conducted to investigate the performance of each approach, but they were never compared side by side. This dataset is intended to be used as the 'gold standard dataset' for the validation of BoBs/CNV-seq test reasults on 10 amniotic fluid samples with pathogenic fetal CNVs.

ORGANISM(S): Homo sapiens

PROVIDER: GSE152288 | GEO | 2020/06/12

REPOSITORIES: GEO

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affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.

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