Genome Analysis Data Platform

Case Studies

The client needed a scalable genome analytics tool to investigate the role of genetic mutations in disease vulnerability.

Pharma & Biotech

Industry

United States

Location

$200,000–$500,000

Budget

CI/CD deployment, Warehouse design, Web portal

Services

Challenge

Each sample required dozens of conditional workflow steps, executed and monitored in parallel across hundreds of computational tasks.

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Outcomes We Deliver

Solution

Blackthorn AI developed a fault-tolerant large-scale genome analysis platform capable of handling hundreds of terabytes of raw sequencing data.

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Tech Stack

To deliver a scalable genome analysis platform, Blackthorn AI applied:

Angular

.Net Core

AWS

Apache Airflow

Azure

GATK

Ensembl

Angular

.Net Core

AWS

Apache Airflow

Azure

GATK

Ensembl

Roadmap

Project duration

01 Month

Business goal validation & architecture

Defined core goals and designed scalable solution to support high-throughput genomics workflows.

02 Month

Pipeline design & genotyping workflows

Implemented raw data ingestion, quality checks, and genotyping processes using AWS Batch and Docker.

03 Month

Annotation & batch compute setup

Deployed variant calling and annotation using GATK, VEP, and LOFTEE in containerized GPU environments.

04 Month

Web portal development

Built researcher-facing UI with secure data access, variant query tools, and result visualization.

05 Month

Analytics engine setup

Designed analytical data warehouse (Redshift); implemented fast SQL for complex genomic queries.

06 Month

CI/CD autoscaling & deployment

Automated full deployment, lifecycle management for hot/cold genomic data, and fault-tolerant scaling.

01 Month

Business goal validation & architecture

Defined core goals and designed scalable solution to support high-throughput genomics workflows.

02 Month

Pipeline design & genotyping workflows

Implemented raw data ingestion, quality checks, and genotyping processes using AWS Batch and Docker.

03 Month

Annotation & batch compute setup

Deployed variant calling and annotation using GATK, VEP, and LOFTEE in containerized GPU environments.

04 Month

Web portal development

Built researcher-facing UI with secure data access, variant query tools, and result visualization.

05 Month

Analytics engine setup

Designed analytical data warehouse (Redshift); implemented fast SQL for complex genomic queries.

06 Month

CI/CD autoscaling & deployment

Automated full deployment, lifecycle management for hot/cold genomic data, and fault-tolerant scaling.

Team Size

Bioinformatics Engineer

Backend Developer

Frontend Developer

AWS Cloud Engineer

Data Engineer

DevOps / Airflow Engineer

6 Qualified AI Experts

Bioinformatics Engineer

Backend Developer

Frontend Developer

AWS Cloud Engineer

Data Engineer

DevOps / Airflow Engineer

Delivering Impact

Beyond the values already highlighted, there’s even more to discover. Our commitment to innovation, client success, and impactful results sets us apart.

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1000+

WGS samples processed

Enabled high-throughput sequencing workflows for COVID-19 susceptibility screening

100%

Automation of genomics workflows

Fully containerized and orchestrated pipeline across GATK, VEP, FastQC, and LOFTEE

6x

Faster data processing

Reduced sample analysis time from 4 days to under 6 hours via batch orchestration and autoscaling compute

1000+

WGS samples processed

Enabled high-throughput sequencing workflows for COVID-19 susceptibility screening

100%

Automation of genomics workflows

Fully containerized and orchestrated pipeline across GATK, VEP, FastQC, and LOFTEE

6x

Faster data processing

Reduced sample analysis time from 4 days to under 6 hours via batch orchestration and autoscaling compute

Vanda Pharmaceuticals

The client needed a scalable genome analytics tool to investigate the role of genetic mutations in disease vulnerability.

Pharma & Biotech

United States

$200,000–$500,000

CI/CD deployment, Warehouse design, Web portal

Each sample required dozens of conditional workflow steps, executed and monitored in parallel across hundreds of computational tasks.

Solution

To deliver a scalable genome analysis platform, Blackthorn AI applied:

Project duration

01 Month

02 Month

03 Month

04 Month

05 Month

06 Month

01 Month

02 Month

03 Month

04 Month

05 Month

06 Month

Team Size

Delivering Impact

1000+

100%

6x

1000+

100%

6x

Discover More  Related Case Studies

Vanda Pharmaceuticals

The client needed a scalable genome analytics tool to investigate the role of genetic mutations in disease vulnerability.

Pharma & Biotech

United States

$200,000–$500,000

CI/CD deployment, Warehouse design, Web portal

Each sample required dozens of conditional workflow steps, executed and monitored in parallel across hundreds of computational tasks.

Solution

To deliver a scalable genome analysis platform, Blackthorn AI applied:

Project duration

01 Month

02 Month

03 Month

04 Month

05 Month

06 Month

01 Month

02 Month

03 Month

04 Month

05 Month

06 Month

Team Size

Delivering Impact

1000+

100%

6x

1000+

100%

6x

Discover More Related Case Studies

Discover More  Related Case Studies