Borland Genetics Web Tools and Database

Kevin Borland's presentation given on July 23, 2022 reviews the Borland Genetics Web Tools and Database, an autosomal database linked to a comprehensive suite of tools geared at mathematically constructing DNA profiles representing deceased individuals. The first portion of the talk covers prerequisite topics necessary to establish a foundation for understanding the methods and tools used in DNA reconstruction. Then Kevin discusses the underlying framework for designing the workflows necessary to accomplish the reconstruction of a targeted ancestor’s genome, a four-step iterative process applicable to almost any permutation of available DNA resources. The core Borland Genetics tools are also explained in the context of executing a basic reconstruction workflow, specifically the Ultimate Phaser, HIR Mapper, Extract Segments tools, and the Humpty Dumpty merge utility. Kevin covers the simple reconstruction scripts linked to the database that streamline some of the most common workflows, i.e., the Missing Parent, Two-Parent Phasing, and the Phoenix/Darkside tools. The next portion of the talk covers some of the most powerful tools in the package that are operated via an interactive experience with the site’s automated assistant, the Creeper. The Reverse Phase workflow allows users to phase DNA of a parent using the DNA of a child, resulting in reconstruction of DNA kits for grandparents relative to the child. The Visual Phasing SmartProject allows users to not only visualize DNA inheritance between siblings, but to actually reconstruct DNA profiles of the siblings’ common parents and grandparents that can be submitted for matching in the database. Finally, Kevin discusses a chronology of recent enhancements to the tools, including a detailed explanation of the latest development, the Segment Lab, a tool used at the mapping stage to assist users in maximizing reconstruction coverage in their output kits. The chronology is also be forward-looking, including a glimpse into some of the exciting concepts currently being explored and developed by Kevin and the Borland Genetics team.