Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery

Abstract excerpt

DNA variation analysis has become indispensable in many aspects of modern biomedicine, most prominently in the comparison of normal and tumor samples. Thousands of samples are collected in local sequencing efforts and public databases requiring highly scalable, portable, and automated workflows for streamlined processing. Here, we present nf-core/sarek 3, a well-established, comprehensive variant calling and annot...

Topics

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• Databases, Genetic
• Exome Sequencing
• Genome, Human
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide
• Sequence Analysis, DNA
• Software
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

73366a2e-bb71-521f-9b3a-a362a516d78d

DOI

10.1101/2023.07.19.549462