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Loqusdb: added value of an observations database of local genomic variation.

Måns MagnussonJesper EisfeldtDaniel NilssonAdam RosenbaumValtteri WirtaAnna LindstrandAnna WedellHenrik Stranneheim
Published in: BMC bioinformatics (2020)
We show both how powerful SV analysis can be when filtering for population frequencies and how the number of apparently rare SNVs/INDELs can be reduced by adding local population information even after annotating the data with other large frequency databases, such as gnomAD. In conclusion, we show that a local frequency database is an attractive, and a necessary addition to the publicly available databases that facilitate the analysis of exome and genome data in a clinical setting.
Keyphrases
  • big data
  • electronic health record
  • copy number
  • adverse drug
  • machine learning
  • artificial intelligence
  • emergency department
  • data analysis
  • dna methylation
  • healthcare
  • genome wide
  • health information