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Biology subjects

Mahar, N. S.

Publications and source records attributed to Mahar, N. S..

2 recordsLinked to original sources

K-MARVEL: K-Mer based Antimicrobial Resistance Virtual Exploration Lab

The rapid global spread of antimicrobial resistance (AMR) necessitates a new generation of computational tools for its surveillance. While next-generation sequencing offers unprecedented insight into the resistome, current methods face a trade-off: assembly-based approaches are computationally expensive and struggle with complex metagenomes, whereas direct-mapping of long reads is hampered by high error rates that obscure critical resistance-conferring mutations. Here, we present K-MARVEL (K-Mer based Antimicrobial Resistance Virtual Exploration Lab), a novel, open-source method to capture ARGs and resistance-conferring mutations from short and long-read sequencing datasets. It operates in protein k-mer space, providing inherent tolerance to nucleotide-level sequencing errors. On a comprehensive benchmark of 61 long and 49 short-read diverse datasets, K-MARVEL demonstrated superior accuracy, achieving F1-scores of 0.9783 and 0.9754 for short and long-read datasets, respectively. Its implementation in Rust enables high speed through parallelization while guaranteeing memory safety. Computationally, it demonstrated superior performance to conventional assembly-based methods, achieving an average speed up of 7x on short-read datasets and 5x on long-read datasets. In terms of memory footprint, it outperformed the assembly-based approaches for short-read datasets, but its memory footprint was comparable for long-read datasets. Notably, K-MARVEL accurately reconstructs functional genes from genomically fragmented evidence, providing a more comprehensive resistome assessment. In conclusion, K-MARVEL provides a scalable, flexible and memory-efficient solution for AMR surveillance. Its unique capabilities for handling noisy long-read data and complex genomic scenarios make it a powerful tool for researchers and public health scientists. K-MARVEL is open-source and freely available at https://bitbucket.org/amr-avenger/k-marvel under the GPL version 3 license.

bioinformatics↗

ANOMALY: A Snakemake pipeline for identifying NuMTs from Long-Read Sequencing Data

MotivationNuclear mitochondrial DNA segments (NuMT) can significantly affect cellular processes, including cancer development and disease progression. Current methods to call NuMTs rely on short-read sequencing data but struggle to resolve complex NuMTs. These limitations can be overcome by employing long-read sequencing data. However, no such workflow exists to capture NuMTs from long-read sequencing data. ResultsHere, we introduce ANOMALY, a novel, easy-to-use workflow for detecting NuMTs from long-read sequencing data. The pipeline takes raw sequencing data or aligned data and calls and visualizes sample NuMTs. On 50 simulated datasets, the pipeline demonstrated high accuracy, with a precision of 1.000, a recall of 0.989, and an F1-score of 0.994. The pipeline underscores the limitations of short-read data in resolving and capturing complex NuMTs while demonstrating that long-read data enables their accurate identification. Availability and ImplementationThe Snakemake pipeline employs Python, Bash and R and is published under an open-source GNU GPL v3 license. Detailed information about setting up and running the pipeline and the source code can be accessed at https://github.com/Nirmal2310/ANOMALY.

bioinformatics↗