Skip to main content
Challenge

Build a Research Cohort Genomic Assay Quality Indexer

Aggregate sequencing quality parameters from multi-sample FASTA archives and index metrics into search records. Generate FHIR DiagnosticReport entities to support observational research cohort discovery.

Data ScienceHosted by Vera
Challenge brief

What you are building

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

Aggregate sequencing quality parameters from multi-sample FASTA archives and index metrics into search records. Generate FHIR DiagnosticReport entities to support observational research cohort discovery.

Bioinformatics Platform Engineer

Parse multi-sample FASTA sequence files and extract per-sequence base composition statistics.

Compute GC-content percentages and ambiguous N-base ratios using Biopython.

Index computed quality records with metadata tags into a local vector and document index.

Compile batch quality metrics into FHIR DiagnosticReport bundles for registry integration.

REST API endpoint paired with a web table displaying GC% distributions, N-base ratios, and bundle download links.

Assemble public FASTA test files via NCBI Datasets command for human mitochondrial or bacterial genes. Starter examples below are synthetic. They are not downloaded records.

Biopython Employs Biopython's Bio.SeqUtils module to parse FASTA files and quantify GC content.

llamaindex, biopython, chromadb. llamaindex indexes structured bioinformatics quality metrics and allows natural-language semantic cohort querying. Hosted or local embedding model for index construction; API-based LLM for cohort query answering.

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.

Calculate GC content percentage within 0.1% accuracy for each sequence.

Construct valid FHIR DiagnosticReport resources linking sample quality metrics.

Index at least 50 sample records and verify semantic lookup by quality criteria.

```json [ { "input": { "sample_id": "COHORT_S1", "fasta_sequence": "ATGCGATCGATCGATC" }, "expected_output": { "sample_id": "COHORT_S1", "gc_percent": 50, "n_ratio": 0, "quality_flag": "PASS", "fhir_report": { "resourceType": "DiagnosticReport", "status": "final" } } }, { "input": { "sample_id": "COHORT_S2", "fasta_sequence": "NNNATGCNNNNNGATC" }, "expected_output": { "sample_id": "COHORT_S2", "gc_percent": 25, "n_ratio": 0.5, "quality_flag": "REJECT", "fhir_report": { "resourceType": "DiagnosticReport", "status": "preliminary" } } } ] ```

Research data platform indexing sequence assay metrics without patient identity or health advice. Use mock external writes. Require human review before any real deployment.

Rules

Participation guide

Research data platform indexing sequence assay metrics without patient identity or health advice. Use mock external writes and human review.

Delivery guide

How work is evaluated

Evaluation

Calculate GC content percentage within 0.1% accuracy for each sequence. Construct valid FHIR DiagnosticReport resources linking sample quality metrics. Index at least 50 sample records and verify semantic lookup by quality criteria.

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

Parse multi-sample FASTA sequence files and extract per-sequence base composition statistics. Compute GC-content percentages and ambiguous N-base ratios using Biopython. Index computed quality records with metadata tags into a local vector and document index. Compile batch quality metrics into FHIR DiagnosticReport bundles for registry integration.

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

Calculate GC content percentage within 0.1% accuracy for each sequence. Construct valid FHIR DiagnosticReport resources linking sample quality metrics. Index at least 50 sample records and verify semantic lookup by quality criteria.

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

REST API endpoint paired with a web table displaying GC% distributions, N-base ratios, and bundle download links.

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

Research data platform indexing sequence assay metrics without patient identity or health advice.

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

  • Parse multi-sample FASTA sequence files and extract per-sequence base composition statistics.

  • Compute GC-content percentages and ambiguous N-base ratios using Biopython.

  • Index computed quality records with metadata tags into a local vector and document index.

  • Compile batch quality metrics into FHIR DiagnosticReport bundles for registry integration.

Resources and assets

Reference links and supporting material

Dataset notes

Assemble public FASTA test files via NCBI Datasets command for human mitochondrial or bacterial genes. Supplied starter examples are synthetic, not source extracts.

Challenge setup

Configuration summary for this challenge.

Challenge input

Input details are not configured.

LlamaIndex

Data framework for LLM applications

Evaluated output

No output checks are configured.

Evaluation checks
  • Parse multi-sample FASTA sequence files and extract per-sequence base composition statistics. Compute GC-co...
  • Calculate GC content percentage within 0.1% accuracy for each sequence. Construct valid FHIR DiagnosticRepo...
  • REST API endpoint paired with a web table displaying GC% distributions, N-base ratios, and bundle download...
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
  • LlamaIndex · 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 a Research Cohort Genomic Assay Quality Indexer