Human Consortia

Human Consortia Overview

With human consortia, Illumina helps biomedical researchers from across the world work together to design and run custom genomics assays. Illumina coordinates, members pool resources, and everyone benefits.

Consortia products include high-powered genotyping arrays and other next-generation genetic analysis tools. Human consortia may be open or confidential. From custom content to project management and bioinformatics, Illumina offers a comprehensive solution for human consortia members. The following are our currently open human consortia offerings.

Consortia Boosters to Flagship Arrays

Contains about 50,000 SNPs fine-mapping content derived from exome sequencing and meta-analysis of phenotype-specific consortia to drive clinical research of the following traits:

  • Psychiatric
  • Neurological
  • Cancerous
  • Cardiometabolic
  • Autoimmune
  • Anthropometric

Available as add-on content to:

The Multi-Disease Booster may combine with other boosters or base content. Contact your Sales Rep for more information.

Features about 30,000 markers from the Infinium PsychArray-24 BeadChip associated with common psychiatric disorders to inspire psychiatric research including:

  • Schizophrenia
  • Bipolar disorder
  • Autism spectrum disorders
  • Attention deficit hyperactivity disorder
  • Major depressive disorders
  • Obsessive compulsive disorder
  • Anorexia
  • Tourette's syndrome

Available as add-on content to:

The Psych Booster may combine with other boosters or base content. Contact your Sales Rep for more information.

Contains 28,000 SNPs curated content focused on a wellness and lifestyle, direct-to-consumer (DTC) application contributed by a consortium of DTC customers

Available as add-on content to:

The Direct-To-Consumer Booster may combine with other boosters or base content. Contact your Sales Rep for more information.

Features about 75,000 SNPs neurodegenerative diseases-concentrated booster to enable rigorous genetic investigation of monogenic cases of Parkinson’s Disease. The Neuro Booster is an update of the NeuroChip Consortium contributed by a consortium led by National Institute of Aging for the Global Parkinson’s Genetics Program. It will enable discovery, fine mapping, polygenic risk score analysis, and replication of previously identified genetic variants associated with common neurodegenerative diseases including:

  • Alzheimer’s Disease
  • Parkinson’s Disease
  • Amyotrophic Lateral Sclerosis (ALS)
  • Multiple Sclerosis (MS)
  • Progressive Supranuclear Palsy (PSP)/Corticobasal degeneration (CBD)
  • Multiple System Atrophy (MSA)
  • Frontotemporal Dementia (FTD)
  • Dementia with Lewy Bodies (DLB)

Learn more about Global Parkinson’s Genetics Program:

Available as add-on content to:

Contact your Sales Rep for more information.

Features over 90,000 SNPs for studying breast cancer in women and men of multiple ancestries. The Confluence Booster will enable discovery of variants for breast cancer risk overall and by subtype, develop multi-ancestry polygenic risk scores for personalized risk assessment and uncover variants for breast cancer survival, pharmacogenomics, and second cancers. The content is carefully selected by National Cancer Institute by leveraging experience with polygenic risk scores for predicting breast cancer across different ancestry groups and subtypes. The Confluence Booster includes:

  • Novel variants and highly penetrant mutations identified in CARRIERS, BRIDGES, PERSPECTIVE I&I, BRA-STRAP, AABCGS and ENIGMA
  • Known pathogenic variants in breast cancer genes such as BRCA1, BRCA2, ATM, PALB2 and CHEK2.

Learn more about the Confluence project:

Available as add-on content to:

Contact your Sales Rep for more information.

Features pan-ethnic coverage sequence, structural variants of >300 autosomal, X-linked recessive diseases with high detection rates and low residual risk, including:

  • Spinal Muscular Atrophy
  • Duchenne Muscular Dystrophy
  • Cystic Fibrosis
  • Hemoglobinopathies
  • Fragile X (requires separate assay)

End-to-end solution available through partnership with Igentify for interpretation.

Available as add-on content to:

The third-party analysis may not be available in some regions. Contact your Sales Rep for more information.

Open Human Consortia

H3Africa Consortium Array

The H3Africa Consortium seeks to empower researchers with leading-edge genomics tools to study environmental and genetic factors that play a role in disease susceptibility and drug responses. With novel, genome-wide content from individuals across African populations, and built on the MEGA Array backbone, the H3Africa Consortium Array1 is designed to be an effective and comprehensive array for the study of African Genomics. H3Africa data will inform strategies to address health inequity and will lead to health benefits in Africa and beyond.

Learn More About This Consortium

Infinium H3Africa Consortium Array

A powerful array for genetic studies focused on African populations.

Read Data Sheet

Participate in Human Consortia

Interested in joining an existing human disease research consortium or starting a new one? Contact us.

Genotyping Research

Explore sequencing- and array-based genotyping solutions that can provide insight into the functional consequences of genetic variation.

Learn More

Human Consortia Products

Infinium DrugDev Consortium Array

This genotyping array was developed in collaboration with leaders in translational genomics and computational biology. It enables researchers to more effectively screen potential drug targets earlier in the development process. Learn more about this consortium.

Infinium Neuro Consortium Array

Partners from the neurogenomics community designed the Neuro Consortium Array to interrogate the genomics of neurodegenerative diseases. The consortium gathered all identified markers found in known neurodegenerative disease genes, to include in a single array.

The Neuro Consortium Array is now available with updated content as the Neuro Booster. Learn more about this consortium.

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Additional Resources

Shared Vision for the Power of Human WGS
The Power of Human WGS

Genomics leaders share their perspective on the impact of high-throughput and population sequencing in clinical research.

Pharmacogenomics and Cardiovascular Disease
Pharmacogenomics and Cardiovascular Disease

See how researchers used an Illumina array to identify responder genotypes in a failed cholesterol drug trial.

Human Infinium Array Family
Human Infinium Array Family

Commercial and consortia products to support a wide range of human genetic analysis studies.

Human Genotyping Solutions
Human Genotyping Array Solutions

Illumina genotyping arrays are a flexible and robust way to screen for SNPs and structural variations.

Illumina Technologies
Illumina Technologies

Our next-generation sequencing and microarray technologies support a wide range of genomics applications.

Genomics and Neurodegenerative Diseases
Genomics and Neurodegenerative Diseases

High-throughput genomics enables insights into genes and pathways associated with diseases like Alzheimer’s and Parkinson’s.

Developing a CogChip for ADHD Studies
Developing a CogChip for ADHD Studies

In collaboration with consortium studies, Dr. Mark Bellgrove is developing a genotyping array to study cognitive control.

  1. NIH provides funding to H3Africa as part of the Common Fund Global Health initiative; the use of any company, commercial product and/or service by H3Africa grantees does not imply endorsement by NIH.