KinLinks: Software Toolkit for Kinship Analysis and Pedigree Generation from HTS Datasets

Abstract

The ability to predict familial relationships from source DNA in multiple samples has a number of forensic and medical applications. Kinship testing of suspect DNA profiles against relatives in a law enforcement database can provide valuable investigative leads, determination of familial relationships can inform immigration decisions, and remains identification can provide closure to families of missing individuals. The proliferation of High-Throughput Sequencing technologies allows for enhanced capabilities to accurately predict familial relationships to the third degree and beyond. KinLinks, developed by MIT Lincoln Laboratory, is a software tool that predicts pairwise relationships and reconstructs kinship pedigrees for multiple input samples using single-nucleotide polymorphism (SNP) profiles. The software has been trained and evaluated on a set of 175 subjects (30,450 pairwise relationships), consisting of three multi-generational families and 52 geographically diverse subjects. Though a panel of 5396 SNPs was selected for kinship prediction, KinLinks is highly modular, allowing for the substitution of expanded SNP panels and additional training models as sequencing capabilities continue to progress. KinLinks builds on the SNP-calling capabilities of Sherlocks Toolkit, and is fully integrated with the Sherlocks Toolkit pipeline.