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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Fact Sheets
​Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN​. ​
… y privado, la Red de Información de Asociación Genética ( Genetic Association Information Network , GAIN), para …
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… with facial analysis AI programs to accurately identify genetic disorders . Using machine learning techniques to …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… target for the immune system to recognize and attack. The genetic sequence is then optimized for the vaccine based on …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… units, called nucleotide bases, which comprise the genetic "alphabet." The bases are adenine (A), thymine (T), … accuracy. Researchers can use DNA sequencing to search for genetic variations and/or mutations that may play a role in … of biomedical studies. One such use is to look for the genetic variations that increase risk of specific diseases, …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… skin or eye color, type of earwax , and even specific genetic diseases. … Rick Guidotti built his career as a … taking beautiful photographs of children and adults with genetic conditions that we don't always see showcased in … genes was previously thought to be responsible for a genetic disease. We would think a person with such a mutation …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… Genetics Home Reference - What is the ENCODE Project? Genetic Alliance - Beyond The DNA-Your Informative Guide to …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… hoped that most forms of cancer were driven by single genetic mutations and could be treated by drugs that target … myeloid leukemia (CML). CML occurs because of a single genetic glitch that leads to the production of a defective … genomes of cancer cells have found an array of different genetic mutations that can lead to the same cancer in …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… and treating many types of cancer. Cancer  is a group of genetic diseases that result from changes in the genome of … Case Study Teaching in Science - Colon Cancer: A Case of Genetic Bad Luck? The National Cancer Institute - The … Genomics Education Program The Jackson Laboratory -  Genetic Testing for Breast Cancer Course NHGRI - My Family …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of the chromosome is duplicated, resulting in extra genetic material. Translocations: A portion of one chromosome … off, turned upside down, and reattached. As a result, the genetic material is inverted. Rings: A portion of a … a circle or ring. This can happen with or without loss of genetic material. Most chromosome abnormalities occur as an …