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Abstract The burgeoning field of genomics as applied to personalized medicine, epidemiology, conservation, agriculture, forensics, drug development, and other fields comes with large computational and bioinformatics costs, which are often inaccessible to student trainees in classroom settings at universities. However, with increased availability of resources such as NSF XSEDE, Google Cloud, Amazon AWS, and other high-performance computing (HPC) clouds and clusters for educational purposes, a growing community of academicians are working on teaching the utility of HPC resources in genomics and big data analyses. Here, I describe the successful implementation of a semester-long (16 week) upper division undergraduate/graduate level course in Computational Genomics and Bioinformatics taught at San Diego State University in Spring 2022. Students were trained in the theory, algorithms and hands-on applications of genomic data quality control, assembly, annotation, multiple sequence alignment, variant calling, phylogenomic analyses, population genomics, genome-wide association studies, and differential gene expression analyses using RNAseq data on their own dedicated 6-CPU NSF XSEDE Jetstream virtual machines. All lesson plans, activities, examinations, tutorials, code, lectures, and notes are publicly available at https://github.com/arunsethuraman/biomi609spring2022.
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A Fast, Reproducible, High-throughput Variant Calling Workflow for Population Genomics
Abstract The increasing availability of genomic resequencing data sets and high-quality reference genomes across the tree of life present exciting opportunities for comparative population genomic studies. However, substantial challenges prevent the simple reuse of data across different studies and species, arising from variability in variant calling pipelines, data quality, and the need for computationally intensive reanalysis. Here, we present snpArcher, a flexible and highly efficient workflow designed for the analysis of genomic resequencing data in nonmodel organisms. snpArcher provides a standardized variant calling pipeline and includes modules for variant quality control, data visualization, variant filtering, and other downstream analyses. Implemented in Snakemake, snpArcher is user-friendly, reproducible, and designed to be compatible with high-performance computing clusters and cloud environments. To demonstrate the flexibility of this pipeline, we applied snpArcher to 26 public resequencing data sets from nonmammalian vertebrates. These variant data sets are hosted publicly to enable future comparative population genomic analyses. With its extensibility and the availability of public data sets, snpArcher will contribute to a broader understanding of genetic variation across species by facilitating the rapid use and reuse of large genomic data sets.
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- Award ID(s):
- 1754397
- PAR ID:
- 10503731
- Editor(s):
- Rzhetsky, Andrey
- Publisher / Repository:
- Molecular Biology and Evolution
- Date Published:
- Journal Name:
- Molecular Biology and Evolution
- Volume:
- 41
- Issue:
- 1
- ISSN:
- 0737-4038
- Format(s):
- Medium: X
- Sponsoring Org:
- National Science Foundation
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- Free Publicly Accessible Full Text
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Accepted Manuscript1.0
- Journal Article:
- https://doi.org/10.1093/molbev/msad270
