Our Members

Ambry Genetics

Ambry genetics is a CLIA-certified fee-for-service clinical testing laboratory.

Broad Center for Mendelian Genomics

The Center for Mendelian Genomics at the Broad Institute of MIT and Harvard is a member of the GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare Disease) funded by the NHGRI (National Human Genome Research Institute), along with 5 other sites across the country. The central goals of the GREGoR consortium are to discover variants and genes underlying Mendelian diseases, to collaboratively facilitate gene discovery, validation and follow up, and to generate new methods for improving diagnosis across a wide spectrum of rare disorders.

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. It is widely used to support clinical practice in the UK NHS, to support the Deciphering Developmental Disorders (DDD) project , and to support an international network of clinicians and researchers working with predominantly rare diseases.

Franklin by Genoox

Genoox is a Healthcare Technology company developing an AI-based interpretation engine for genomic information. Our engine is built on top of Franklin Community Data - a unique crowdsourced dataset that makes our solution accurate and based on real-world evidence. To date, the interpretation engine supports multiple applications including rare diseases, oncology, hereditary cancer, carrier screening, and custom panels.

G2P

G2P (gene2phenotype) is a publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering. Each G2P entry associates an allelic requirement and a mutational consequence at a defined locus with a disease entity. A confidence level and evidence link are assigned to each entry.

Genomics England PanelApp

Genomics England's PanelApp is a knowledgebase of curated gene panels which crowdsources expert reviews for gene-disease validity assessment The gene panels are utilised by Genomics England’s genome interpretation services, support a consensus in gene content for the NHSE Genomic Medicine Service, as well as worldwide for omics analysis.

HGNC

The HGNC (HUGO Gene Nomenclature Committee) is the sole worldwide authority for providing approved symbols and names for human genes.

Illumina

The Illumina Clinical Services Laboratory offers the TruGenome Undiagnosed Disease Test, a clinical whole-genome sequencing test for patients with a suspected rare and undiagnosed genetic disease. The lab also supports clinical programs such as the iHope Program, which donates clinical genome sequencing tests to help find answers for children facing these types of diseases.

Invitae

Invitae is a CLIA-certified fee-for-service clinical testing laboratory.

King Faisal Specialist Hospital and Research Center

Developmental genetics

Laboratory for Molecular Medicine

The Laboratory for Molecular Medicine (LMM) is a CLIA-certified molecular diagnostic laboratory, operated by Mass General Brigham Personalized Medicine. The LMM is led by a group of Harvard Medical School-affiliated faculty, geneticists, clinicians, and researchers from Brigham and Women’s Hospital and Massachusetts General Hospital, Mass General Brigham's founding members. Our mission is to bridge the gap between research and clinical medicine.

Myriad Women's Health

As a CLIA-certified clinical testing laboratory, Myriad Women’s Health provides genetic screening and support for women and their families.

OMIM

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

Orphanet

Orphanet (www.orpha.net) is a knowledge base on rare diseases and orphan drugs, bridging the fields of healthcare and research. Orphanet, a network of 38 countries, aims to increase knowledge on rare diseases so as to improve the diagnosis, care, and treatment of rare diseases. Orphanet provides a medical terminology dedicated to rare diseases, the Orphanet nomenclature of rare diseases (ORPHA code) used in healthcare and research in Europe; it is annotated with curated scientific data, including rare disease-related genes.

PanelApp Australia

PanelApp Australia is managed by the Australian Genomics Health Alliance (Australian Genomics) and is used by Australian diagnostic laboratories, clinicians and researchers to establish and maintain consensus virtual gene panels for use in genomic analysis.

PharmGKB

The Pharmacogenomics Knowledge Base (PharmGKB) is a publicly available resource for pharmacogenomics discovery and implementation. PharmGKB collects, curates and disseminates knowledge about the impact of human genetic variation on drug response phenotypes. Its content encompasses information to catalyze scientific research such as variant annotations and drug-centered pathways, and clinically relevant information including high-level clinical annotations, clinical guideline annotations, and drug label annotations.