BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers.

ABSTRACT:

Background

Preimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction. However, traditional methods could not further distinguish embryos carrying a translocation from those with a normal karyotype prior to implantation.

Methods

To solve this problem, we developed a method named "Chromosomal Phasing on Base level" (BasePhasing), which based on Infinium Asian Screening Array-24 v1.0 (ASA) and a specially phasing pipeline. Firstly, by comparing the number of single nucleotide polymorphism (SNP) loci in different minor allele frequencies (MAFs) and in 2Mbp continuous windows of ASA chip and karyomap-12 chip, we verified whether ASA could be adopted for genome-wide haplo

SUBMITTER: Zhang S 

PROVIDER: S-EPMC6423798 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature