Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing.

ABSTRACT:

Background

The detection limit of noninvasive prenatal testing (NIPT) by next generation sequencing for any given fetal copy number variants (CNV) can be influenced by several factors. In this study, we quantified the effects and predicted the value of parameters for CNVs detection by NIPT.

Methods

Genomic DNA from patient's leucocytes with 3.16 Mb microdeletion in 22q11.21 was mixed with DNA from aborted fetal tissues without CNV at various concentrations by an enzyme digestion method. Abnormal DNA at 0% served as negative control. Sequencing of mixture samples (at 0%, 4%, 12%, and 20%) by Ion Proton Sequencer was performed at flow 500, with WISECONDOR as the pipeline in CNV-calling and bin of 500, 750 and 1,000 kb for counting unique reads. The parameters were evaluated wi

SUBMITTER: Zhang C 

PROVIDER: S-EPMC6625335 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature