Search Results
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… disorder. Dr. Stewart is leading a project which uses new high-throughput sequencing technologies to identify, catalog and … tumor-predisposition disorders, neurofibromatosis, high-throughput sequencing technologies …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic … Women often request noninvasive screening tests to detect genetic conditions. These tests, … risk of serious complications were those with very high levels of abnormal cells in the placenta," said Mark D. …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. High-throughput custom capture sequencing identifies novel … James Thomas, NIH Intramural Sequencing Center (NISC), high-throughput sequencing, comparative genomics, data production …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing … DNA biorepositories, electronic medical record (EMR), high-throughput genetic research, genomic medicine …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… the panel address the social structural ramifications of screening based on race and/or genetic ancestry? Recognizing … with self-identified race or background genetic ancestry, screening based on these factors will inevitably miss some … Ideally, everyone would have genomic data available and screening would be based on actual variant data rather than …
Educational Resources
Non-directiveness refers to the nature of the genetic counseling process.
… Carrier Screening, Birth Defect, Genetic Screening, Genetic Testing, Family Health History, Newborn Screening, Genetic Counseling …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… At the NHGRI, Dr. Elkahloun started applying large scale screening methods to identify genes associated with … Patel N, Elkahloun A, Lee MJ, Trepel J, Ferrer M, Pacak K. High-throughput screening for the identification of new … Abdel Elkahloun, large-scale screening methods, microarray technology, transcriptomics …
Educational Resources
Fraternal twins are also dizygotic twins.
… Genes, Twins, Family Health History, Newborn Screening …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days after birth … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening …