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Challenge

Build an NCBI Gene Package RefSeq Annotation and Semantic Kernel Indexer

Extract gene metadata and RefSeq accession catalogs from NCBI Datasets archive packages. Build an index of functional annotations and link them to FHIR DiagnosticReport resources.

Data ScienceHosted by Vera
Challenge brief

What you are building

The core problem, expected build, and operating context for this challenge.

Extract gene metadata and RefSeq accession catalogs from NCBI Datasets archive packages. Build an index of functional annotations and link them to FHIR DiagnosticReport resources.

Genomics Research Engineer

Extract gene data packages containing gene, RNA, and protein accessions.

Parse accession mappings across eukaryotic transcript isoforms.

Index functional definitions using Semantic Kernel connectors.

Export FHIR R5 DiagnosticReport resources summarizing transcript catalog status.

Console-based search and export tool producing FHIR DiagnosticReport packages.

Fetch reference gene metadata via NCBI Datasets CLI using command 'datasets download gene gene-id 1 2 3'. Starter examples below are synthetic. They are not downloaded records.

NCBI Datasets gene download Uses NCBI Datasets accession arguments (RefSeq nucleotide and protein accessions) to extract transcript structures.

semantic-kernel, biopython, pydantic. Semantic Kernel enables structured plugin skills to orchestrate multi-step data transformation and search indexing. Hosted Claude or OpenAI model through Semantic Kernel native connector.

Submit runnable source, pinned dependencies, setup commands, a working interface, example outputs, and a recorded end-to-end demo. Include tests and an action log.

Successfully parses NCBI Datasets data package reports into accession tables.

Semantic Kernel skills accurately categorize RefSeq NM_ and NP_ identifiers.

Generates FHIR DiagnosticReport objects linked to specific gene IDs.

```json [ { "input": { "gene_id": "2", "symbol": "A2M", "transcripts": [ "NM_000014.6" ], "proteins": [ "NP_000005.3" ] }, "expected_output": { "report_id": "REP-GENE-2", "matched_accessions": 2, "indexing_status": "INDEXED", "transcript_count": 1, "protein_count": 1 } }, { "input": { "gene_id": "999999", "symbol": "UNKNOWN", "transcripts": [], "proteins": [] }, "expected_output": { "report_id": "REP-GENE-999999", "matched_accessions": 0, "indexing_status": "EMPTY_CATALOG", "transcript_count": 0, "protein_count": 0 } } ] ```

Designed solely for reference genome sequence indexing without clinical diagnosis or therapeutic intent. Use mock external writes. Require human review before any real deployment.

Rules

Participation guide

Designed solely for reference genome sequence indexing without clinical diagnosis or therapeutic intent. Use mock external writes and human review.

Delivery guide

How work is evaluated

Evaluation

Successfully parses NCBI Datasets data package reports into accession tables. Semantic Kernel skills accurately categorize RefSeq NM_ and NP_ identifiers. Generates FHIR DiagnosticReport objects linked to specific gene IDs.

Submission format

Runnable source, pinned dependencies, setup commands, working interface, example outputs, recorded demo, tests, and action logs.

Datasets

Challenge datasets

Public datasets, plus the private datasets you have access to.

Evaluation rubric

How submissions are scored

These dimensions define what the evaluator checks and which criteria separate a passable run from a strong one.

Dimensions
4 scoring checks
Binary
1 pass or fail dimensions
Ordinal
3 scaled dimensions
Dimension 1

Complete workflow

Extract gene data packages containing gene, RNA, and protein accessions. Parse accession mappings across eukaryotic transcript isoforms. Index functional definitions using Semantic Kernel connectors. Export FHIR R5 DiagnosticReport resources summarizing transcript catalog status.

Score scale
012
Score 0

Missing or incorrect.

Score 1

Partly complete, with documented gaps.

Score 2

Complete, with reproducible evidence.

Dimension 2

Correctness and evidence

Successfully parses NCBI Datasets data package reports into accession tables. Semantic Kernel skills accurately categorize RefSeq NM_ and NP_ identifiers. Generates FHIR DiagnosticReport objects linked to specific gene IDs.

Score scale
012
Score 0

Missing or incorrect.

Score 1

Partly complete, with documented gaps.

Score 2

Complete, with reproducible evidence.

Dimension 3

Review interface

Console-based search and export tool producing FHIR DiagnosticReport packages.

Score scale
012
Score 0

Missing or incorrect.

Score 1

Partly complete, with documented gaps.

Score 2

Complete, with reproducible evidence.

Dimension 4

Safe execution

Designed solely for reference genome sequence indexing without clinical diagnosis or therapeutic intent.

Binary check

This dimension contributes its full weight only when the submission satisfies the requirement. Partial credit is not awarded.

Learning goals

What you should walk away with

  • Extract gene data packages containing gene, RNA, and protein accessions.

  • Parse accession mappings across eukaryotic transcript isoforms.

  • Index functional definitions using Semantic Kernel connectors.

  • Export FHIR R5 DiagnosticReport resources summarizing transcript catalog status.

Resources and assets

Reference links and supporting material

Dataset notes

Fetch reference gene metadata via NCBI Datasets CLI using command 'datasets download gene gene-id 1 2 3'. Supplied starter examples are synthetic, not source extracts.

Challenge setup

Configuration summary for this challenge.

Challenge input

Input details are not configured.

Semantic Kernel

Agent Systems · Agent Frameworks

Evaluated output

No output checks are configured.

Evaluation checks
  • Extract gene data packages containing gene, RNA, and protein accessions. Parse accession mappings across eu...
  • Successfully parses NCBI Datasets data package reports into accession tables. Semantic Kernel skills accura...
  • Console-based search and export tool producing FHIR DiagnosticReport packages.
Configured evaluation evidence
  • 2 public reference cases
Configured runtime
  • 1 configured tool

Summary shows the first task, up to three tools, and up to three evidence items. Open the technical recipe to view all configured items.

View technical recipe

Configured tools

Action Space
  • Semantic Kernel · Optional

Evaluation contract

  • Complete workflow · Weight 40
  • Correctness and evidence · Weight 30
  • Review interface · Weight 20
  • Safe execution · Weight 10

Reference cases

  • 2 public reference cases

Workflow tasks

No workflow tasks are configured.

Recipe freeze marker

No recipe freeze time is recorded.

Frequently Asked Questions about Build an NCBI Gene Package RefSeq Annotation and Semantic Kernel Indexer