HLA Twin Workshop ASHI 2016 Advanced
Omixon HLA TwinTM
September, 2016
Efi Melista, Head of Field and Lab Operations
Agenda §
Overview (5 mins)
§
Analysis Challenges (5 mins)
§
Hands-on workflows in HLA Twin (1 h 15 mins)
§
Questions - just put your hand up – we’ll be right over!
§
Sneak Peak: Coming Soon! (5 mins)
Introduction to Holotype HLA™ Holotype HLA is a combination Assay and Software product for the comprehensive gene amplification of multiple HLA loci, and sequencing on Illumina sequencing platforms. NGS Assay
+
NGS Software
Omixon Holotype HLA (Assay) Kits Kit sizes Loci Indexes Samples per run* CE-IVD
5-locus
7-locus
11-locus
96
24 and 96
24 and 96
ABC, DQB1, DRB1
5+ DPB1, DQA1
7+ DRB3/4/5 DPA1
3x 96 index sets
2x 96 index sets 2x 24 index sets
2x 96 index sets 2x 24 index sets
32-288
4-192
4-96
N/A
Q1, 2016
Q1, 2017
Fully pooled (per-sample indexing) MiniSeq, MiSeq and NextSeq supported Nano, Micro & Standard Flow Cells supported 300-cycle and 500-cycle chemistry supported 2 genotyping algorithms *Maximum determined on a MiSeq with 250x250 chemistry and a standard flow cell
Omixon HLA Twin™ (Software) §
Software component of Holotype HLA
§
Automated genotyping after the Illumina sequencing run
§
Preconfigured Holotype HLA-specific settings
§
Up to 2 algorithms for determining HLA genotypes – Consensus Genotyping (Assembly) – Statistical Genotyping (Alignment to IMGT/HLA)
§
Traffic light system for data interpretation and workflow management Passed Info Inspect Inves2gate Failed
Analysis Challenges §
How can I detect novel alleles?
§
How can I be sure that a reported null allele is correct?
§
How can I detect sample contamination?
§
How can I troubleshoot an assay-related problem?
§
How can I resolve difficult-to-deal-with ambiguities?
Hands-on Workflows in Twin §
Hands on workflows in HLA Twin (55 mins) § High Quality Sample § Novel Allele § Null Allele § Cis/Trans Ambiguity § Unusual Sample § Samples with Technical Errors
Sneak Peak: Coming Soon in HLA Twin! §
Noise track
§
Fragment visualization for better phasing resolution
§
Amino Acid track
§
Clinical workflow management
§
Genotype precise reduction - work at the level you need
§
Categorized Quality Control Metrics for better guided results interpretation
MyHolotype @ the Omixon Website
September, 2016
Efi Melista, Head of Field and Lab Operations
Agenda §
Overview (5 mins)
§
Analysis Challenges (5 mins)
§
Hands-on workflows in HLA Twin (1 h 15 mins)
§
Questions - just put your hand up – we’ll be right over!
§
Sneak Peak: Coming Soon! (5 mins)
Introduction to Holotype HLA™ Holotype HLA is a combination Assay and Software product for the comprehensive gene amplification of multiple HLA loci, and sequencing on Illumina sequencing platforms. NGS Assay
+
NGS Software
Omixon Holotype HLA (Assay) Kits Kit sizes Loci Indexes Samples per run* CE-IVD
5-locus
7-locus
11-locus
96
24 and 96
24 and 96
ABC, DQB1, DRB1
5+ DPB1, DQA1
7+ DRB3/4/5 DPA1
3x 96 index sets
2x 96 index sets 2x 24 index sets
2x 96 index sets 2x 24 index sets
32-288
4-192
4-96
N/A
Q1, 2016
Q1, 2017
Fully pooled (per-sample indexing) MiniSeq, MiSeq and NextSeq supported Nano, Micro & Standard Flow Cells supported 300-cycle and 500-cycle chemistry supported 2 genotyping algorithms *Maximum determined on a MiSeq with 250x250 chemistry and a standard flow cell
Omixon HLA Twin™ (Software) §
Software component of Holotype HLA
§
Automated genotyping after the Illumina sequencing run
§
Preconfigured Holotype HLA-specific settings
§
Up to 2 algorithms for determining HLA genotypes – Consensus Genotyping (Assembly) – Statistical Genotyping (Alignment to IMGT/HLA)
§
Traffic light system for data interpretation and workflow management Passed Info Inspect Inves2gate Failed
Analysis Challenges §
How can I detect novel alleles?
§
How can I be sure that a reported null allele is correct?
§
How can I detect sample contamination?
§
How can I troubleshoot an assay-related problem?
§
How can I resolve difficult-to-deal-with ambiguities?
Hands-on Workflows in Twin §
Hands on workflows in HLA Twin (55 mins) § High Quality Sample § Novel Allele § Null Allele § Cis/Trans Ambiguity § Unusual Sample § Samples with Technical Errors
Sneak Peak: Coming Soon in HLA Twin! §
Noise track
§
Fragment visualization for better phasing resolution
§
Amino Acid track
§
Clinical workflow management
§
Genotype precise reduction - work at the level you need
§
Categorized Quality Control Metrics for better guided results interpretation
MyHolotype @ the Omixon Website
