TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception.

ABSTRACT:

Motivation

An estimated 10-30% of clinically recognized conceptions are aneuploid, leading to spontaneous miscarriages, in vitro fertilization failures and, when viable, severe developmental disabilities. With the ongoing reduction in the cost of genotyping and DNA sequencing, the use of high-density single nucleotide polymorphism (SNP) markers for clinical diagnosis of aneuploidy and biomedical research into its causes is becoming common practice. A reliable, flexible and computationally feasible method for inferring the sources of aneuploidy is thus crucial.

Results

We propose a new method, TroX, for analyzing human trisomy data using high density SNP markers from a trisomic individual or product of conception and one parent. Using a hidden Markov model, we infer the stage

SUBMITTER: Kermany AR 

PROVIDER: S-EPMC4080739 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature