-
AutoPVS1 is now compatible with hg19/GRCh37 and hg38/GRCh38.
-
VEP version upgrade to release/104
-
Transcript structure update to UCSC ncbiRefSeq
- hg19 ncbiRefSeq.txt.gz 20210518
- hg38 ncbiRefSeq.txt.gz 20210201
-
Population allele frequency database
- hg19: gnomAD r2.1 exomes and genomes
- hg38: gnomAD r3.0 genomes
-
Clinvar version update to archive 2021-06
- Biologically-relevant transcripts update
- Functional region and hotspot update
- Pathogenic sites update
- Exon with frequent LoF update
-
PVS1 levels
- ClinGen clinical validity update to 20210624
- Null mouse model update to 20210510