Bayesian model for accurate MARSALA (mutated allele revealed by sequencing with aneuploidy and linkage analyses).

ABSTRACT:

Purpose

This study is aimed at increasing the accuracy of preimplantation genetic test for monogenic defects (PGT-M).

Methods

We applied Bayesian statistics to optimize data analyses of the mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) method for PGT-M. In doing so, we developed a Bayesian algorithm for linkage analyses incorporating PCR SNV detection with genome sequencing around the known mutation sites in order to determine quantitatively the probabilities of having the disease-carrying alleles from parents with monogenic diseases. Both recombination events and sequencing errors were taken into account in calculating the probability.

Results

Data of 28 in vitro fertilized embryos from three couples were retrieved from two publ

SUBMITTER: Xiong L 

PROVIDER: S-EPMC6602990 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature