TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception
Author(s) -
Amir R. Kermany,
Laure Ségurel,
Tiffany R. Oliver,
Molly Przeworski
Publication year - 2014
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btu159
Subject(s) - aneuploidy , genotyping , trisomy , biology , snp , chromosome , genetics , computational biology , computer science , single nucleotide polymorphism , genotype , gene
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.
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