Leveraging large family analyses for more accurate de novo mutation detection.

Abstract

De novo mutations (DNMs), which arise in the offspring and are absent in the parents, are increasingly studied in farm animals with the advent of whole-genome sequencing (WGS). Variant calling after genome sequencing is a crucial step in modern genomics, and its accuracy directly influences subsequent genetic analyses, which are vital not only in breeding and human healthcare but also in functional genomic research. Yet, using only families with trios neglects the important shared information in the family and leads to an inaccurate determination of DNMs. Here, we show that using inheritance-based Whole Genome Sequencing (WGS) data analysis on a larger family is an effective way to identify DNMs in offspring accurately, and we present the first such study in rabbits.