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@olaaustine olaaustine released this 11 Jan 16:24
· 6 commits to release/111 since this release
release/111.0
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Learn about vigilant mode.

New option --individual_zyg returns a single list of individuals and their zygosity (instead of a separate line of output for each individual and variant combination like in --individual)
Custom annotation has been improved with the following options:
num_records to limit the number of matching records (50 by default)
summary_stats to calculate summary statistics (min, mean, max, count, sum) using annotation scores (not used by default)

New plugins (supported on CLI, REST and web):
Enformer - adds pre-calculated predictions of variant impact on gene expression
BayesDel - adds a deleteriousness meta-score combining multiple deleteriousness predictors
OpenTargets - adds locus-to-gene (L2G) scores to predict causal genes at GWAS loci from Open Targets Genetics

New plugins (supported on CLI):
DeNovo - identifies de novo variants in a VCF file. This plugin requires a pedigree (.ped) file.
SpliceVault - predicts exon-skipping events and activated cryptic splice sites based on the most common mis-splicing events around a splice site
DosageSensitivity - annotates the likelihood of a gene being haploinsufficient or triplosensitive
VARITY - adds pre-calculated pathogenicity scores of rare human missense variants

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