CHANGELOG.md

Changelog

All notable changes to this project will be documented in this file.

2021-06-30

• Major update: 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

2020-07-15

• VEP version upgrade to release/100.
• Transcript structure update to UCSC 20200301.
• Clinvar version update to 20200629.
  • Functional region and hotspot update.
  • Pathogenic sites update.
• PVS1 levels update.
  • ClinGen clinical validity update to 20200630.
  • Null mouse model from IMPC update.

2020-03-16

• Support custom transcript.

2020-02-08

• Clinvar version update to 20200106.