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Educational Resources
Linkage is the close association of genes or other DNA sequences on the same chromosome.
… association of genes or other DNA sequences on the same chromosome. … DNA Sequence, Linkage Analysis, Family Health History, Chromosome … Linkage, as related to genetics and genomics, … of genes or other DNA sequences to one another on the same chromosome. The closer two genes or sequences are to each …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… locate the position of a disease-associated gene along the chromosome. … Candidate, Gene, Chromosome, Contig, Deoxyribonucleic Acid (DNA), Gene, … to locate the position of a disease-associated gene on a chromosome. Such a strategy can succeed even when nothing is …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… (ELSI) of the possible implementation of genomic sequencing of newborns.   Each research project collects a … currently screened for in newborns, how can genomic sequencing replicate or augment known newborn screenig … not currently screened for in newborns could genomic sequencing of newborns provide? What additional clinical …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… complete genome sequence.” The T2T consortium used new DNA sequencing technologies and analytical methods to generate … like putting together a jigsaw puzzle, and different DNA sequencing technologies generate different types of genomic … researchers tested Verkko with human and non-human genome sequencing data. The software quickly and precisely assembled …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility. … … a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility. Humans … (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Reports of genomic sequencing being applied to the medical care of individual … most likely to be usefully addressed by a genomic sequencing approach still accumulating. Incorporation of … co-funding from NCI, subsequently crafted the Clinical Sequencing Exploratory Research (CSER) initiative to: 1) …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… caused by a deletion of a group of genes located on chromosome number 11. Babies born with WAGR syndrome often … Tumor-Aniridia-Gonadoblastoma-Mental Disability Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The … WAGR syndrome is deletion of a group of genes located on chromosome number 11 (11p13 - the "p13" refers to the …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… linked to one or more genes and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the Human Genome … genetic maps, coupled with the HGP's successful sequencing of the entire human genome, has greatly advanced …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs. 
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC). In this role, Dr. Thomas will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring … that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet …