exome-sequencing
An UMI-tagged sequencing swiss-knife. Built for amplicon sequencing of immune repertoires, ctDNA and rare mutations, single-cell sequencing.
Audit whether exome data can support an interpretation, before the interpretation.
Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.
