David Steinberg

Results 120 issues of David Steinberg

In order to perform ETL of the gencode gff3, we provide a script that parses that file. To close this issue, move that software to a different module and test...

enhancement
Sequence Annotation
repo manager

Although checks are in place to keep the inferred names from being empty, it appears one can manually set the name to be empty. `python repo_dev.py add-readgroupset l a ga4gh-example-data/HG00096.bam...

enhancement
repo manager
QA

It appears the index files are optional in the current references implementation. We ought to explicitly pass the index path using `filepath_index` so that repositories can be read only directories,...

blocked
repo manager
References

For interchanging structural variants.

enhancement
repo manager
Variants

The list reference bases request will throw an exception is the end is out of range. This is an undue pressure placed on clients and doesn't seem to be a...

bug
References

Hi everyone! In order to prepare for our demonstration server with the 1kg VCFs I've started to perform some rudimentary single node load testing. Both server and client are in...

wontfix
QA
discussion

Variant annotation supports searching by referenceName and referenceId. Currently, only search by referenceName is supported.

low priority
Variant Annotation
Schemas

I'm working with the add-variantset to see whether remote VCF will work yet, or not. Here is the repo manager call `python repo_dev.py add-variantset ga4gh-example-data/repo.db test "http://s3.amazonaws.com/1000genomes/release/20130502/ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz" -I"/Users/david/1000genomes/1kvcf/ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz.tbi" --referenceSetName NCBI37`...

bug
repo manager
Variants

To go with https://github.com/ga4gh/schemas/pull/706

Variant Annotation
Schemas

There are annotated variants available in the thousand genomes FTP. By updating the script to access annotated variants we can demonstrate a larger part of the server.

enhancement
Variant Annotation
Documentation