Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance.

ABSTRACT: With the increasing number of sequencing projects involving families, quality control tools optimized for family genome sequencing are needed. However, accurately quantifying contamination in a DNA mixture is particularly difficult when genetically related family members are the sources. We developed TrioMix, a maximum likelihood estimation (MLE) framework based on Mendel's law of inheritance, to quantify DNA mixture between family members in genome sequencing data of parent-offspring trios. TrioMix can accurately deconvolute any intrafamilial DNA contamination, including parent-offspring, sibling-sibling, parent-parent, and even multiple familial sources. In addition, TrioMix can be applied to detect genomic abnormalities that deviate from Mendelian inheritance patterns, such as uniparent

SUBMITTER: Yoon CJ 

PROVIDER: S-EPMC9808622 | biostudies-literature | 2022 Nov-Dec

REPOSITORIES: biostudies-literature