Testing Your Genetics & Genome
Embarking on a journey to explore your family tree, genetics, and genome can be one of the most rewarding endeavours you will ever undertake. Grounded in your heritage and genetic information, this exploration offers a glimpse into the foundation of your inherent nature, providing valuable insights into who you are and where you belong in the world. weave your unique tapestry.
Genograms
Beyond family trees, another valuable option is to construct a genogram—a diagrammatic representation of family relationships and medical history presented in a structured visual format. Genograms are invaluable for gaining insights into family dynamics, hereditary patterns, and health information.
Ancestry Testing
Ancestry testing, also known as DNA ancestry testing or genetic genealogy testing, is a type of genetic examination that analyses an individual's DNA to unveil valuable insights into their genetic ancestry and heritage. These tests offer a window into various facets of a person's ancestral background, including their origins, migration history, and ethnic composition.
Moreover, ancestry testing is pivotal in advancing population genetics research by amassing data from a diverse array of individuals. This data, in turn, enables scientists to explore human genetic diversity, historical migration routes, and demographic trends.
Ancestry testing is a comprehensive tool that can unveil various aspects of your genetic heritage, including specific ethnic origins, genetic lineages traceable to common ancestors (haplogroups), historical migration patterns of your ancestors, identification of genetic matches and DNA relatives, as well as health-related insights like carrier status for specific genetic conditions. By embarking on this journey, you may uncover previously unknown cousins, distant relatives, or even biological family members, which can provide invaluable clues about your family connections while aiding in constructing and enriching your family tree.
African Ancestry (African)
WeGene (Chinese)
One Family One World (Adoptees)
HomeDNA (Paternity Tests)
BritainsDNA (Britain & Ireland)
Whole genome sequencing (WGS) is a comprehensive genetic testing technique that involves decoding the entire DNA sequence of an individual's genome. It aims to determine the precise order of all the DNA base pairs (adenine [A], thymine [T], cytosine [C], and guanine [G]) that make up an individual's genetic code.
Whole genome sequencing is a fundamental tool in genomics research, enabling scientists to study genetic diversity, evolution, and the molecular basis of diseases. It is considered the gold standard in genetic testing because of its comprehensiveness, as it provides a wealth of information about an individual's genetic makeup. It can broadly be applied in clinical medicine, research, and personalized healthcare.
Baylor College of Medicine Human Genome Sequencing Center
Complete Genomics Services (a MGI company)
Personal Genome Diagnostics (PGDx)
Whole Genome Sequencing (WGS)
The genome is the complete set of an individual's genetic material, including all their genes, DNA sequences, and genetic variations. It serves as the instruction manual for the body, determining traits, susceptibility to diseases, and many other biological functions. Genome sequencing involves reading and decoding the DNA sequence to identify genes and genetic markers.
National Center for Biotechnology Information (NCBI)
European Bioinformatics Institute (EBI)
National Human Genome Research Institute (NHGRI)
The Cancer Genome Atlas (TCGA)
ENCODE (Encyclopedia of DNA Elements)
Genome
The epigenome consists of chemical modifications to the DNA and histone proteins that can influence gene expression without altering the underlying DNA sequence. Epigenetic changes can be responsive to environmental factors and play a crucial role in regulating gene activity, development, and disease susceptibility.
ENCODE (Encyclopedia of DNA Elements)
The Roadmap Epigenomics Program
Epigenomics at the European Bioinformatics Institute (EBI)
International Human Epigenome Consortium (IHEC)
The Epigenome Center at the University of Southern California
Epigenome
The transcriptome refers to the complete set of RNA molecules (transcripts) produced by an individual's genes. It includes messenger RNA (mRNA), non-coding RNA, and other RNA species. The transcriptome provides insights into which genes are actively being expressed in a specific tissue or under certain conditions, helping researchers understand cellular functions and responses.
Genotype-Tissue Expression (GTEx)
Functional Annotation of the Mammalian Genome (FANTOM)
The Cancer Genome Atlas (TCGA)
The Genomics Institute of the Novartis Research Foundation (GNF)
The National Institute of Genomic Medicine (INMEGEN)
The European Transcriptomics Initiative (EU-TRAIN)
The Functional Genomics Core Facility at the University of California, Davis.
Transcriptome
Once an individual’s complete genome is sequenced by taking a range of blood, urine, nasal microbiome, and gut microbiome it is possible to assess your omes. The process known as personal omics profiling collects information from the myriad of -omes that make us who we are – our genome, epigenome, transcriptome, proteome, metabolome, autoantibody-ome and microbiome.
Each of these "-omes" contributes unique and valuable information to our understanding of human biology and health. By examining and integrating data from these different omics levels, researchers and healthcare professionals can gain holistic insights into an individual's health, identify disease risk factors, and develop personalized approaches to prevention, diagnosis, and treatment.
The Omics Profile
The proteome encompasses all the proteins produced by an individual's genes. Proteins are the cell's workhorses, carrying out various functions, such as enzyme activity, structural support, and signalling. Studying the proteome provides insights into protein composition, abundance, modifications, and interactions, shedding light on cellular processes and disease mechanisms.
The Human Proteome Project (HPP)
The ProteomeXchange Consortium
The Clinical Proteomic Tumor Analysis Consortium (CPTAC)
The Max Planck Institute of Biochemistry
The National Resource for Translational and Developmental Proteomics (NRTDP)
Proteome
The metabolome comprises all the small molecules (metabolites) involved in cellular metabolism. Metabolites include sugars, amino acids, lipids, and other organic compounds. Analysing the metabolome can reveal information about the biochemical pathways active in the body, nutrient metabolism, and metabolic responses to diet, drugs, and diseases.
The Metabolomics Innovation Centre (TMIC)
University of California, Davis
West Coast Metabolomics Center
Pacific Northwest Metabolomics Research Center (PNW Metabolomics Center)
Metabolome
The autoantibody-ome focuses on autoantibodies, which are antibodies produced by the immune system that mistakenly target the body's own tissues or molecules. Autoantibodies are associated with autoimmune diseases and profiling them can aid in diagnosing autoimmune conditions and understanding immune system dysregulation.
The National Center for Advancing Translational Sciences (NCATS)
The Benaroya Research Institute at Virginia Mason
The Ludwig Institute for Cancer Research
The Mayo Clinic Autoimmune Disease Research Center
The European Autoimmunity Standardisation Initiative (EASI)
The University of Houston Autoantibody Biomarker Research Laboratory
Autoantibody-Ome
The microbiome consists of the diverse community of microorganisms (bacteria, viruses, fungi, etc.) that reside in and on the human body, primarily in the gut, skin, mouth, and other mucosal surfaces. The microbiome plays a vital role in digestion, immune function, and metabolism. Research on the microbiome has uncovered its influence on various aspects of health, from gastrointestinal disorders to mental health and beyond.
Human Microbiome Project (HMP)
The International Human Microbiome Consortium (IHMC)
Microbiome
Collecting human omic data, which encompasses various types of data related to the human genome, transcriptome, proteome, and other "omics" fields, is crucial to biomedical and genomic research. Numerous organizations, research initiatives, and institutions actively collect, archive, and share human omic data. Here are some notable organizations and initiatives that focus on collecting human omic data:
The International Human Cell Atlas (IHCA)
IHCA is working to create a comprehensive reference of human cells, including single-cell omics data.
National Center for Biotechnology Information (NCBI)
NCBI provides various databases and resources for human omic data, including genomic, transcriptomic, and proteomic data.
The Genomic Data Commons (GDC)
GDC, funded by the National Cancer Institute, is a platform for sharing and accessing genomic and clinical data related to cancer research.
The International Cancer Genome Consortium (ICGC)
ICGC is a global initiative that characterises genomic alterations in various cancer types and provides extensive human genomic data.
The Human Tumor Atlas Network (HTAN)
HTAN aims to create an atlas of human tumours using multi-omics data to improve cancer diagnosis and treatment.
This initiative provides extensive protein expression and localization data in human tissues and cells.
The Human Proteome Project (HPP)
HPP is a global effort to map and characterize all human proteins using proteomic and transcriptomic data.
The Encyclopedia of DNA Elements (ENCODE)
ENCODE focuses on identifying and characterizing functional elements in the human genome and offers a wide range of omic data.
The Human Microbiome Project (HMP2)
Continuing the original HMP, HMP2 aims to characterize the human microbiome and its role in health and disease.
The Human BioMolecular Atlas Program (HuBMAP)
HuBMAP focuses on mapping the human body at the cellular and molecular level, including genomics and transcriptomics data.
The National Institute of Allergy and Infectious Diseases (NIAID) ImmPort Database
ImmPort is a repository of clinical and immunology data related to infectious diseases and immune responses, including omic data.
The International Proteomics Initiative (HUPO)
The Human Proteome Organization (HUPO) facilitates proteomics research and data sharing, contributing to the human proteome map.
The BrainSpan Atlas of the Developing Human Brain
This resource provides transcriptomic data related to the development of the human brain.
The Single Cell Expression Atlas
Part of EMBL-EBI, this resource offers single-cell transcriptomics data for various tissues and organisms, including humans.
The Cancer Proteome Atlas (TCPA)
TCPA is a resource that provides proteomic data for cancer research and precision medicine.
The International HapMap Project
While the project has concluded, the data collected from HapMap provides valuable genomic information, including genetic variations in human populations.
This initiative encourages individuals to contribute their genomic and health data to advance personalized medicine and genomic research.
The All of Us Research Program
Led by the National Institutes of Health (NIH), this initiative aims to gather diverse health data, including genomics, from one million or more participants to advance precision medicine.
The Accelerating Medicines Partnership (AMP)
AMP is a collaborative effort between the NIH, pharmaceutical companies, and nonprofit organizations to accelerate the development of new treatments by integrating genomic and clinical data.
The Genomic England 100,000 Genomes Project
This initiative aims to sequence 100,000 genomes from NHS patients and provide valuable data for research and healthcare.
This initiative aims to map all human proteins using transcriptomics and proteomics, offering a comprehensive resource for human proteome data.
The Human Cell Atlas project seeks to create a comprehensive reference map of all human cells using single-cell transcriptomics and genomics data.
The GTEx (Genotype-Tissue Expression) Project
GTEx aims to provide a comprehensive atlas of gene expression across various human tissues and offers valuable human transcriptomic data.
This initiative provides genomic data from diverse human populations, facilitating the understanding of human genetic variation.
The Human Microbiome Project (HMP)
HMP focuses on characterizing microbial communities in and on the human body and provides valuable human microbiome data.
The International Human Epigenome Consortium (IHEC)
IHEC is a global collaboration that maps the human epigenome, including epigenomic data.
From Mapping Cells To Brain Function
Mapping the genome marked an incredible scientific milestone, but it was just the beginning. Today, scientists are embarking on an even more ambitious journey—mapping the human body at an unprecedented level of detail, cell by cell, tissue by tissue, and organ by organ. This ambitious endeavour, known as the Human Cell Atlas, parallels what the Human Genome Project did for DNA, creating a reference map that allows us to explore the intricate tapestry of our bodies.
The Human Cell Atlas relies on cutting-edge techniques like Single-Cell and Spatial Genomics to build a comprehensive reference map of every human cell. It is not merely about cataloguing cells; it is about understanding their roles and functions within our body. Single-Cell genomics dissects individual cells, offering detailed insights into their composition and characteristics. Meanwhile, Spatial Genomics examines how these cells interact within tissues and influence each other. By combining these approaches, the Human Cell Atlas aims to compile an exhaustive list of all cell types and provide a wealth of data for in-depth analysis.
But the journey does not stop at cells. Brain Genomics takes us deeper into the intricate workings of our most complex organ. A project known as PsychENCODE seeks to create a vast and publicly accessible database detailing the genetic and biological processes active within the human brain. Through the analysis of brain samples and tissues, this initiative aims to uncover specific gene pathways, identify distinct cell types, pinpoint their locations in the brain, and decipher the genetic variations that underlie brain function.
While the Human Genome Project was undoubtedly a monumental achievement, it primarily focused on our genetic blueprint. Cells, on the other hand, encapsulate not only the impact of our genes but also the dynamic processes that shape our biology. They reveal the structural intricacies and behaviours of our body's building blocks. The exploration of cells, genes, brain pathways, and beyond underscores the significance of having a comprehensive reference map—a guide to understanding our own complexity.
As history has shown, the technologies that emerged from the Human Genome Project eventually made genomic sequencing accessible to the general population. Similarly, the progress being made in cell mapping, brain genomics, and related fields holds the promise of democratizing access to these sophisticated technologies, potentially revolutionizing healthcare, and our understanding of ourselves. The journey from cells to brain function is not just a scientific endeavour; it is a revolution in personalized medicine and human exploration, and it has the potential to benefit us all.
Brain Genomics Organisations
Brain genomics organizations are dedicated to advancing our understanding of the human brain by studying its genetic and genomic components. These organizations often conduct research, provide resources, and collaborate on projects related to brain genomics.
The Stanley Center for Psychiatric Research
Affiliated with the Broad Institute, this centre conducts research on the genomics of psychiatric disorders, including schizophrenia, bipolar disorder, and autism.
Australian Genomics Health Alliance
This alliance is involved in genomics research relevant to various medical conditions, including brain-related ones.
Canadian Brain Research Strategy (CBRS)
CBRS focuses on brain research, including genomics and neuroscience, to improve brain health and support those with neurological disorders.
Allen Institute for Brain Science
The Allen Institute conducts extensive research on the brain, including brain genomics. They offer various open-access resources and datasets for the scientific community.
HBP is a large-scale European research initiative integrating neuroscience, medicine, and computing to advance our understanding of the human brain. It includes genomics research as part of its efforts.
While not exclusively focused on brain genomics, the UK Biobank is a major resource for population-based genomics research, including studies on brain health and neurological disorders.
Psychiatric Genomics Consortium (PGC)
PGC is a collaborative effort to identify the genomic factors underlying psychiatric and neurological disorders. It involves researchers from around the world.
Genetic Investigation of ANthropometric Traits (GIANT)
GIANT conducts genomic research on body traits and diseases, including factors relevant to brain health.
This marks a pivotol moment on the Wellness Revolution. Being able to sequence the genome and map the omics profile gives a benchmark on which to measure progress. It marks the halfway mark of the program, achieving the potential of the Wellness Revolution is now within reach.
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