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bmilius-nmdp edited this page Sep 19, 2014 · 48 revisions

HML Examples

NGS examples

Locus Method Interpretation
Format
HML Other info
A
B
NGS GL String 0.9.4
DRB1 NGS GL String 0.9.4

Examples of older technologies in HML 0.94

Locus Method Interpretation
Format
HML Other info
A
B
C
Haploid 0.9.4 three samples; no primary data or interpretation
DRB1
DQB1
DPB1
SBT Haploid
(allele code
and allele)
0.9.4
A
B
C
SBT Haploid
(allele code
and allele)
0.9.4
DPA1
DPB1
SSO Haploid
(allele)
0.9.4
DPA1

Examples from previous versions of HML converted to v0.93

| Locus | Method | Interpretation
Format | HML | Other info | | ----- | ------ | --------------------- | ------- | ------- || | A | DNA | allele code | 0.3.0 | Lab 999 typed a sample for center 123 for the ABDR project for NMDP ID: 444-333-2. The typing was performed on Jan 23, 2004. The results are:
A0102, A0103
A0103, A0106 | | A | DNA | genotype list | 0.3.0
0.9.3 | (same as above, but reported as genotype list instead of allele code)<br >Lab 999 typed a sample for center 123 for the ABDR project for NMDP ID: 444-333-2. The typing was performed on Jan 23, 2004. The results are:
A0102, A0103
A0103, A0106 | | B | SBT | genotype list | 0.3.3
0.9.3| In this case there is an intronic or exon1 gSSP reagent that is uninformative for our local interpretation. The gssp tag with no contents is an indicator of a hemizygous product | | B | SBT | genotype list | 0.3.3
0.9.3| In this case there is an intronic or exon1 gSSP reagent that is uninformative for our local interpretation. The gssp tag with no contents is an indicator of a hemizygous product | | B | SBT | genotype list | 0.3.3<br > 0.9.3| example showing GSSP as sequence instead of registered-name | | DRB1 | SBT | genotype list | 0.3.3
0.9.3| There is no generic sequence in this example. It contains GSSPs that are specific for DRB113 and DRB115 | | DRB1 | SBT | genotype list | 0.3.3
0.9.3| This is a homozygous sample with no generic sequence. This is up-front GSSP that is DR13 specific. | | 2DL1
2DL2
2DL3
2DL4
2DL5
2DS1
2DS2
2DS3
2DS4
2DS5
3DL1
3DL2
3DL3
3DS1
| SSO | genotype list | 0.3.0
0.9.3| Lab 999 typed a sample for center 789 for a project entitled "KIR". The typing was performed on Sep 8, 2008. They tested fourteen KIR genes and reported presence/absence for each,along with the probe information. Each locus was reported in its own 'typing' HML element. | | 2DL1
2DL2
2DL3
2DL4
2DL5
2DS1
2DS2
2DS3
2DS4
2DS5
3DL1
3DL2
3DL3
3DS1
| SSO | genotype list | 0.3.0
0.9.3| Same as above (6.1) except for each sample (one, in this case), all loci were reported in a single 'interpretation' element. |

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