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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… led to an explosion in at-home, or "direct to consumer" genomic testing. You can even seek genomic information without … testing, such as for cancer [see Cancer Genomics ] and prenatal screening [see NIPT ] in which a healthcare …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… year to repeat your evaluation.  … A study exploring how prenatal blood test results for the baby might also detect … who:  received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals  What is … today in 2021 only look at a small slice of a person’s genomic information to make estimates about certain health … considering future pregnancy, they may consider seeing a prenatal genetic counselor or other genetics professional to …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that … within a biological sample, most often to look for genomic variants associated with a hereditary or genetic … with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Jeannine Mjoseth … Extending noninvasive prenatal screening to all 24 human chromosomes can detect … Because of the way data have been analyzed, typical genomic tests performed during pregnancy have targeted extra … Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH's National Human …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… The NHGRI Genomic Medicine Working Group is a subcommittee of the … Medicine, Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing … The Genomic Medicine Working Group …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical … of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA … learning and memory after birth. Noninvasive Prenatal Genomic Testing Since its incorporation into clinical care in …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… Prabarna Ganguly, Ph.D. … Test for rare genomic condition measures disease severity and success of … if they would benefit from surgical or experimental genomic therapies that target the liver. The study results … Credit: Ernesto del Aguila III, NHGRI.  MMA is a rare genomic disease that impairs the body’s ability to metabolize …
Outreach
15 examples of how genomics has and continues to transform our world in myriad ways.
… Sequence, Genomics Impact On Society, Cancer Genomics, Genomic Testing, Enhanced Forensics, Genome Editing, Prenatal Genetic Testing, Rare Genetic Diseases … 15 examples …