Kaviar: an accessible system for testing SNV novelty

  title={Kaviar: an accessible system for testing SNV novelty},
  author={Gustavo Glusman and Juan Caballero and Denise E. Mauldin and Leroy E. Hood and Jared C. Roach},
  volume={27 22},
SUMMARY With the rapidly expanding availability of data from personal genomes, exomes and transcriptomes, medical researchers will frequently need to test whether observed genomic variants are novel or known. This task requires downloading and handling large and diverse datasets from a variety of sources, and processing them with bioinformatics tools and pipelines. Alternatively, researchers can upload data to online tools, which may conflict with privacy requirements. We present here Kaviar, a… CONTINUE READING
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