Publications by authors named "Nicholas Wiltsie"
Reference genomes are foundational to modern genomics. Our growing understanding of genome structure leads to continual improvements in reference genomes and new genome "builds" with incompatible coordinate systems. We quantified the impact of genome build on germline and somatic variant calling by analyzing tumour-normal whole-genome pairs against the two most widely used human genome builds.
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- Advances in DNA sequencing technology have made it faster and more affordable, leading to improved data availability and the need for complex algorithms and workflows.
- Metapipeline-DNA is a customizable and flexible analysis pipeline that handles various processing tasks like read alignment, variant calling, and quality control, making it easier to analyze DNA sequencing data.
- This open-source tool is available under the GPLv2 license and can be accessed for free at https://github.com/uclahs-cds/metapipeline-DNA.