Biology subjects

Tara Boettcher

Publications and source records attributed to Tara Boettcher.

2 recordsLinked to original sources

bioRxiv2016

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

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.

Bioinformatics↗

bioRxiv2016

Human CODIS STR Loci Profiling from HTS Data

Human DNA identification is currently performed by amplifying a small, defined set of short tandem repeat (STR) loci (e.g. CODIS) and analyzing the size of the alleles present at those loci by capillary electrophoresis. High-throughput DNA sequencing (HTS) could enable the simultaneous analysis of many additional STR and single nucleotide polymorphism (SNP) loci, improving accuracy and discrimination. However, it is necessary to demonstrate that HTS can generate accurate data on the CODIS loci to enable backwards compatibility with the FBI NDIS database. Sequencing can also detect novel polymorphisms within alleles that migrate with identical sizes by capillary electrophoresis, improving allele discrimination, and enhancing human identification analysis. All CODIS alleles from an individual can be amplified in a single, multiplex PCR reaction, and combined with additional barcoded samples prior to sequencing. A computational tool for allele identification from multiplexed sequence data has been developed. With longer-read-length platforms, 99.6% allele calling accuracy can be achieved. In the course of STR sequencing protocol development, 12 novel allele sequences have been identified for multiple loci. Sequencing STR loci combined with SNPs will enable new forensic applications.

Bioinformatics↗