Loqusdb: added value of an observations database of local genomic variation.
Måns MagnussonJesper EisfeldtDaniel NilssonAdam RosenbaumValtteri WirtaAnna LindstrandAnna WedellHenrik StranneheimPublished 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.