functional annotation
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Motif
environment
probabilistic model
domain annotation
metagenomic
metatranscriptomic
healthy population
whole genome sequencing
de novo variants
Machine learning
copy-number-variants
pathogenicity prediction
structural variants
tads
gene regulation
genome-wide association study (gwas)
activity-by-contact (abc)
crispr (clustered regularly interspaced short palindromic repeats)
dnase-seq
expression quantitative trait locus (eqtl)