Related Experiment Video
Updated: Sep 4, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Hamiltonian Monte Carlo with strict convergence criteria reduces run-to-run variability in forensic DNA mixture
Mateusz Susik1, Holger Schönborn2, Ivo F Sbalzarini3
1Biotype GmbH, Dresden, 01109, Germany; Technische Universität Dresden, Faculty of Computer Science, Dresden, 01187, Germany.
Motivation:
Analysing mixed DNA profiles is a common task in forensic genetics. Due to the complexity of the data, such analysis is often performed using Markov Chain Monte Carlo (MCMC)-based genotyping algorithms. These trade off precision against execution time. When default settings (including default chain lengths) are used, as large as a 10-fold changes in inferred log-likelihood ratios (LR) are observed when the software is run twice on the same case. So far, this uncertainty has been attributed to the stochasticity of MCMC algorithms. Since LRs translate directly to strength of the evidence in a criminal trial, forensic laboratories desire LR with small run-to-run variability.
Results:
We present the use of a Hamiltonian Monte Carlo (HMC) algorithm that reduces run-to-run variability in forensic DNA mixture deconvolution by around an order of magnitude without increased runtime. We achieve this by enforcing strict convergence criteria. We show that the choice of convergence metric strongly influences precision. We validate our method by reproducing previously published results for benchmark DNA mixtures (MIX05, MIX13, and ProvedIt). We also present a complete software implementation of our algorithm that is able to leverage GPU acceleration for the inference process. In the benchmark mixtures, on consumer-grade hardware, the runtime is less than 7 min for 3 contributors, less than 35 min for 4 contributors, and less than an hour for 5 contributors with one known contributor.
Related Concept Videos
Optimizing Chromatographic Separations
Band broadening refers to spreading solute bands as they travel through the column. This broadening can impact resolution. Plate height (H) represents the length required for one theoretical plate. A lower plate height corresponds to...
Sample Preparation for Analysis: Advanced Techniques
Acid digestion with strong acids is commonly used to dissolve inorganic materials that are insoluble (do not dissolve) in water. This method can be useful for...
Mechanistic Models: Compartment Models in Algorithms for Numerical Problem Solving
In individual population analyses, different algorithms are employed, such as Cauchy's method, which uses a...
Hardy-Weinberg Principle
Mass Spectrometry: Complex Analysis
GC–MS is a powerful hyphenated method commonly used in forensics and environmental...
DNA Isolation

