nmdp-bioinformatics dash issues

nmdp-bioinformatics / dash

Data Standards Hackathon for NGS based typing.

GNU Lesser General Public License v3.0

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fix hml examples

#57 bmilius-nmdp closed 3 years ago
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uploaded slides

#56 bmilius-nmdp closed 3 years ago
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added hml2fhir doc

#55 bmilius-nmdp closed 3 years ago
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added hml examples

#54 bmilius-nmdp closed 3 years ago
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fixed examples subject reference

#53 bmilius-nmdp closed 3 years ago
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added profiles and examples for validation

#52 bmilius-nmdp closed 3 years ago
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Updated hackathon prep slides

#51 bmilius-nmdp closed 3 years ago
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updated DaSSH4_HackathonPrep slides

#50 bmilius-nmdp closed 3 years ago
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Added bundle examples for uploading to LogicaHealth

#49 bmilius-nmdp closed 3 years ago
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Added hackathon prep slides

#48 bmilius-nmdp closed 3 years ago
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dassh4 directfhir examples

#47 bmilius-nmdp closed 3 years ago
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dass4, scripts and examples for directfhir and hml2fhir

#46 bmilius-nmdp closed 3 years ago
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cleanup README

#45 mmaiers-nmdp closed 7 years ago
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dash6

#44 mmaiers-nmdp closed 7 years ago
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README update for IHIWS

#43 mmaiers-nmdp closed 7 years ago
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README update for IHIWS

#42 mmaiers-nmdp closed 7 years ago
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Ihiws

#41 mmaiers-nmdp closed 7 years ago
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ihiws

#40 mmaiers-nmdp closed 7 years ago
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fixed FHIR json files

#39 bmilius-nmdp closed 7 years ago
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Update README.md

#38 mwright-nmdp closed 7 years ago
0
Update for DaSH5

#37 mmaiers-nmdp opened 7 years ago
1
Added full FHIR bundle examples for clinFHIR

#36 bmilius-nmdp closed 7 years ago
0
Added another FHIR example

#35 bmilius-nmdp closed 7 years ago
0
Update README.md

#34 mwright-nmdp closed 9 years ago
4
Update HML to version 0.9.7 in examples and documentation

#33 ghost opened 9 years ago
0
MIRING Message Persistence service and URI generation

#32 mmaiers-nmdp opened 9 years ago
0
HML Spec: Can there be a way to include consensus sequence quality in HML?

#31 bnbowman closed 9 years ago
1
HML Spec: Is it possible to represent a homopolymer of uncertain length in HML?

#30 bnbowman opened 9 years ago
3
HML Extensibility

#29 jpollack-nmdp opened 9 years ago
0
Novel Polymorphism: What is the Scope?

#28 jpollack-nmdp opened 9 years ago
0
Genotype List restricted to perfect matching genotypes

#27 jpollack-nmdp opened 9 years ago
0
Novel Polymorphisms: How to define 'unreferenced regions'?

#26 jpollack-nmdp closed 9 years ago
1
Consensus Sequences: linking phased consensus region to IMGT alignments

#25 jpollack-nmdp closed 9 years ago
2
Consensus Sequences: IMGT alignments

#24 jpollack-nmdp closed 9 years ago
2
GL-Service "Exon Mode"

#23 mmaiers-nmdp opened 9 years ago
0
HML Spec: Will having consensus sequences in both orientations cause any problems?

#22 bnbowman opened 9 years ago
0
HML Spec: We currently only track a single date (interp). Some have expressed interest in having a typing date as well.

#21 dvaliga closed 9 years ago
2
HML Spec: Additional sample data like sample method are important to the labs (accuracy of test and important to NMDP if the sample method changes at some point).

#20 dvaliga opened 9 years ago
0
HML Spec: phasing in order to resolve ambiguity of Exon shuffling

#19 sozanne closed 9 years ago
1
HML Spec - Overlap of targetted region

#18 abarber-nmdp closed 9 years ago
1
HML Spec: Diagram for 0.9.5 spec still contains a CDATA node under targeted-region, but shouldn't.

#17 dvaliga closed 9 years ago
3
HML Spec: Consensus sequence can take in a URI. What does this mean? Targeted-region and sequence are still always required - how does this work with a URI? Redundant? Need a choice switch somewhere in there?

#16 dvaliga closed 9 years ago
2
HML Spec: For all elements that allow a URI attribute, do we need an additional 'format' or 'content' attribute to define what is at the URI endpoint?

#15 dvaliga opened 9 years ago
2
HML Spec: Request to make the 'sequence' element extensible with custom-use attributes. Allow xs:anyattribute for sequence.

#14 dvaliga closed 9 years ago
2
HML Spec: How should sequence data that is 'unsure' be reported. For example there are known issues with some sequencers with multiple 'G' bases where it is unknown how many 'G's are in a row. How to identify this?

#13 dvaliga closed 9 years ago
3
HML Spec: Add IMGT position attribute to targeted-region.

#12 dvaliga closed 9 years ago
3
URI contents

#11 mpresteg opened 9 years ago
2
HML Spec: If two seqences show up in a consensus-sequence, but have different lengths (due to deletions for instance), is this okay? Remember that there is only a single targeted-region which has a specific length start/end length that will no longer necessarily match either of the DNA sequence lengths. Is it okay if the two sequence lengths are different and if they don't match the targeted-region?

#10 dvaliga closed 9 years ago
2
HML Spec: Allele-db and allele-version currently exist for interpretation. These are also useful associated directly with a consensus-sequence and should be added as attributes to consensus-sequence.

#9 dvaliga closed 9 years ago
4
HML Spec: Does 'sample' need additional status attributes?

#8 dvaliga opened 10 years ago
0