Denoising of microhaplotype MPS data using DADA2 and its application to two-person DNA mixture analysis.

Abstract excerpt

With the advent of phase-known sequencing enabled by massively parallel sequencing (MPS), research on microhaplotypes (microhaps), multi-single nucleotide polymorphisms within short DNA fragments, has advanced significantly in forensic genetics. However, MPS data inherently contains PCR and sequencing errors, presenting challenges in distinguishing minor contributor alleles from background noise in DNA mixture...

Topics

• Humans
• Haplotypes
• Polymorphism, Single Nucleotide
• High-Throughput Nucleotide Sequencing
• Algorithms
• DNA Fingerprinting