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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.
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… where he combined his interests in early genome sequencing of the Escherichia coli genome with the nascent … for a YAC-based, STS content physical map of human chromosome 7, which greatly expedited gene discovery on this chromosome, and directed sequencing efforts in the early days …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… Mullikin pioneered DNA sequencing technologies during the Human Genome Project and … the whole progress, from the very early days of Sanger sequencing all the way to a complete telomere-to-telomere … NISC has evolved in tandem with rapidly advancing DNA sequencing technologies. When I was appointed acting director …