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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)3
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Talking Glossary
La susceptibilidad, en cuanto a la genética, se refiere al estado de tener predisposición o estar sensible a desarrollar una determinada enfermedad.
Educational Resources
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.
Talking Glossary
La sustitución, en lo que se relaciona a la genómica, es un tipo de mutación en la que un nucleótido es reemplazado por un nucleótido diferente.
Educational Resources
Substitution is a type of mutation where one base pair is replaced by a different base pair.
Talking Glossary
Un codón de terminación es una secuencia de tres nucleótidos (un trinucleótido) en el DNA o el ARN mensajero (ARNm) que señaliza una parada en la sÃntesis proteica de la célula.
Educational Resources
A stop codon is a trinucleotide sequence within a messenger RNA (mRNA) molecule that signals a halt to protein synthesis.
Educational Resources
A stem cell is a cell with the potential to form many of the different cell types found in the body.
Talking Glossary
El análisis Southern blot es un método de laboratorio que se utiliza para estudiar el ADN.