DaSH 2017 Progress Report

Progress Report

Haplotype Frequency Curation Service

In 2017, the Haplotype Frequency Curation Service (https://github.com/nmdp-bioinformatics/service-haplotype-frequency-curation) was initially implemented. Endpoints for getting and posting Haplotype Frequencies and Populations have been implemented: http://phycus.b12x.org:8080/swagger-ui.html. Code has also been added to support a delete endpoint for Haplotype Frequencies.

Perl, Python and Java clients have been checked in with the service and all make use of Swagger code generation.

The Java client is multi-module and includes an infrastructure for command line tools, with a basic tool implemented for pushing haplotype frequencies in a standard file format to the Frequency Curation Service with some basic annotations.

/* More to be said about Perl and Python clients here - @mhalagan-nmdp, @hpeberhard */

Discussions regarding useful (pragmatic?) annotation of haplotype frequencies and populations is underway, with implementation/upload of some real world examples likely to further fuel the conversation. Further discussion, and the implementation, of access control will likely be necessary before certain frequency sets may be uploaded. Clarity around annotation of haplotype frequency sets and populations will aid in determining how to implement duplicate detection within the service.

/* Other additions? @fscheel, @sauter, @HofmannJ, @jbrelsf2-nmdp, @pbashyal-nmdp

HL7 FHIR

IHIWS Follow Up

Primate MHC

Etc