DEAFNESS VARIATION DATABASE

What's new?

We are very excited to announce the release of DVD v8.1! With this release, we have modified our list of genes to be consistent with the newest version of our OtoSCOPE® genetic testing platform.

Below is a list of changes we made for this release.

Note to DVD Users: Atypical InDel Format

DVD v8.1 uses an in-house variant annotation tool called "ASAP". While ASAP's determination of effect is accurate, it makes some assumptions that can introduce discrepancies resulting in slight differences from other sources such as ClinVar. These discrepancies are specifically apparent for reported InDels. For example, chr13:20762107:CCGATG>C is reported as chr13:20762108:CGATG>-. We are planning to replace ASAP with VEP in December of 2018 which will resolve this discrepancy.

Version 8.1 changes

  • Four genes have been renamed to match HUGO-approved gene symbols: ADGRV1 (GPR98), WHRN (DNB31), PJVK (DFNB59), TWNK (C10orf2)
  • More variants have been manually-curated by the MORL
  • Version 8.0 changes

  • Genes added: ATP6V1B1, CD164, CDC14A, EPS8L2, FGF3, FGFR1, FGFR2, GATA3, KITLG, LOXL3, MCM2, MET, PEX1, PEX6, ROR1, S1PR2, TBX1
  • More variants have been manually-curated by the MORL
  • A new downloadable version of the DVD is now available here
  • Version 7.0 changes

  • Genes added: C10orf2, CISD2, COL4A3, COL4A4, COL4A5, COL4A6, DCDC2, EDN3, EDNRB, FAM65B, MITF, MT-TL1, MT-TS1, NARS2, NLRP3, OPA1, OSBPL2, PAX3, POLR1C, POLR1D, SLITRK6, SNAI2, SOX10, TCOF1, TECTB, TMEM132E
  • Genes removed: CATSPER2, CRYL1, GTPBP3, MIR182, MIR183, MTO1, TFB1M, TRMU
  • Minor allele frequencies from ExAC are now included
  • Minor allele frequencies from 1000 Genomes have been updated from Phase 1 to Phase 3
  • ClinVar annotations have been updated to the March 1, 2016 release
  • dbSNP rs IDs have been updated from Build 142 to Build 146
  • Prediction data have been updated from dbNSFP v2.1 to dbNSFP v3.0
  • A downloadable version of the DVD is now available here
  • More data from our in-house OtoDB have been curated and added
  • We have added more information on variant classifications and the nomenclature we use for the DVD