HLA Twin Workshop ASHI 2015 Advanced
Agenda §
Updates in features in
and new (15 mins)
§
Hands on workflows in HLA Twin v1.1 (45 mins) § Iden?fica?on of reference mistypings with Holotype HLA § Example #1 – 3rd field mistyping § Example #2 – 2nd field mistyping § Example #3 – cis/trans ambiguity § Example #4 – homozygous mistyping (hopefully...)
§
Ques?ons -‐ just put your hand up – we’ll be right over!
EAP Par+cipants §
THANK YOU ALL!!
Introduc+on to Holotype HLA™ Holotype HLA is a combina?on Assay and SoYware product for the comprehensive gene amplifica?on of mul?ple HLA loci, and sequencing on the Illumina MiSeq.
NGS Assay + NGS SoYware
Updates in Omixon Holotype HLA §
7 loci – HLA-‐A, B, C, DRB1, DPB1, DQA1 and DQB1 (current)
§
DRB3/4/5 and DPA1
§
Fully pooled configura?on only (per-‐sample indexing)
§
European CE mark for Assay+SoYware
§
MasterMix op?miza?on – QIAGEN Partnership
§
Suppor?ng addi?onal automa?on instruments
§
192 samples per MiSeq run
Implementa+on HLA Twin
Omixon HLA Twin™ (SoAware) §
SoYware component of Holotype HLA
§
Automated genotyping aYer MiSeq run
§
Preconfigured Holotype HLA-‐specific segngs
§
Two algorithms for determining HLA genotypes – Consensus Genotyping (Assembly) – Sta?s?cal Genotyping (Alignment to IMGT/HLA)
§
Traffic light system for data interpreta?on and workflow management
Updates in Omixon HLA Twin §
General algorithm improvements for further ambiguity reduc?on
§
Improved user interface
§
Introduc?on of more comprehensive quality control traffic light
§
Display of HLA allele calls of each individual algorithm in case of discordance
§
Improved re-‐analysis func?ons
§
Improved results assignment func?ons
§
Customizable PDF repor?ng
The Traffic Light System
UPDATE
UPDATE
Summary cards
UPDATE
View bujon
UPDATE
UPDATE
Sample Details
UPDATE
Browse Alignment
UPDATE
Naviga?on bujons
Hands-‐on Workflows in Twin Iden%fica%on of reference mistypings with Holotype HLA
§ Example #1 – 3rd field mistyping § Example #2 – 2nd field mistyping § Example #3 – cis/trans ambiguity § Example #4 – homozygous mistyping (hopefully...)
Updates in features in
and new (15 mins)
§
Hands on workflows in HLA Twin v1.1 (45 mins) § Iden?fica?on of reference mistypings with Holotype HLA § Example #1 – 3rd field mistyping § Example #2 – 2nd field mistyping § Example #3 – cis/trans ambiguity § Example #4 – homozygous mistyping (hopefully...)
§
Ques?ons -‐ just put your hand up – we’ll be right over!
EAP Par+cipants §
THANK YOU ALL!!
Introduc+on to Holotype HLA™ Holotype HLA is a combina?on Assay and SoYware product for the comprehensive gene amplifica?on of mul?ple HLA loci, and sequencing on the Illumina MiSeq.
NGS Assay + NGS SoYware
Updates in Omixon Holotype HLA §
7 loci – HLA-‐A, B, C, DRB1, DPB1, DQA1 and DQB1 (current)
§
DRB3/4/5 and DPA1
§
Fully pooled configura?on only (per-‐sample indexing)
§
European CE mark for Assay+SoYware
§
MasterMix op?miza?on – QIAGEN Partnership
§
Suppor?ng addi?onal automa?on instruments
§
192 samples per MiSeq run
Implementa+on HLA Twin
Omixon HLA Twin™ (SoAware) §
SoYware component of Holotype HLA
§
Automated genotyping aYer MiSeq run
§
Preconfigured Holotype HLA-‐specific segngs
§
Two algorithms for determining HLA genotypes – Consensus Genotyping (Assembly) – Sta?s?cal Genotyping (Alignment to IMGT/HLA)
§
Traffic light system for data interpreta?on and workflow management
Updates in Omixon HLA Twin §
General algorithm improvements for further ambiguity reduc?on
§
Improved user interface
§
Introduc?on of more comprehensive quality control traffic light
§
Display of HLA allele calls of each individual algorithm in case of discordance
§
Improved re-‐analysis func?ons
§
Improved results assignment func?ons
§
Customizable PDF repor?ng
The Traffic Light System
UPDATE
UPDATE
Summary cards
UPDATE
View bujon
UPDATE
UPDATE
Sample Details
UPDATE
Browse Alignment
UPDATE
Naviga?on bujons
Hands-‐on Workflows in Twin Iden%fica%on of reference mistypings with Holotype HLA
§ Example #1 – 3rd field mistyping § Example #2 – 2nd field mistyping § Example #3 – cis/trans ambiguity § Example #4 – homozygous mistyping (hopefully...)
