Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays.

ABSTRACT:

Background

Trio studies, which involve the testing of samples from a proband and both parents, are often used by clinical laboratories to help with the classification of genetic variants, including copy number variants. In order for the results of the trio study to be valid, the mother and father must be the true biological parents of the proband. As such, non-paternity and sample mix-ups are potential sources of error. To address these potential issues, we developed a computer script to accurately assess maternity and paternity using single nucleotide polymorphism (SNP) data generated by Agilent chromosomal microarrays, a platform-of-choice for clinical copy number testing.

Results

We assessed the performance of the script on 10 putative trios tested at our laboratory, and

SUBMITTER: Xia D 

PROVIDER: S-EPMC6220459 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature