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News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Ten intramural investigators will receive exome sequencing data as part of their clinical research projects … NIH Clinical Center. Using CCGO funds, the NIH Intramural Sequencing Center will sequence the exomes of 1,000 NIH Clinical Center patients. Exome sequencing explores the 1-2 percent of the genome that …
Talking Glossary
An exome is the sequence of all the exons in a genome, reflecting the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome.
… Exome … An exome is the sequence of all the exons in a genome, … the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome. … An exome is the sequence of all the exons in a genome, … the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome. …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different methods and strategies for sequencing genomes are of great interest because they … scrutiny and attention have been given to genome-sequencing costs and how they are calculated since the …
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 … expedited gene discovery on this chromosome, and directed sequencing efforts in the early days of the Human Genome Project. In 1997, he co-founded the NIH Intramural Sequencing Center (NISC) as director of the Bioinformatics …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… (NHGRI) has tracked the costs associated with DNA sequencing performed at the sequencing centers funded by the Institute. This information … an important benchmark for assessing improvements in DNA sequencing technologies and for establishing the DNA … quality [see below]; (2) "Cost per Genome" - the cost of sequencing a human-sized genome. For each, a graph is …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI … physicians already have ordered clinical genome or exome sequencing (CGES) for their patients, Leslie G. … While these technologies are sometimes referred to as whole-genome or whole-exome sequencing, they don't cover 100 …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable … provided by NHGRI to Intramural Investigators employing exome/genome sequencing. ​ …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… in genomic medicine, has many predicting that prenatal whole genome sequencing will be widely available in the next five years. … But before prenatal whole genome sequencing is adopted, physicians in obstetrics and … Physician attitudes will impact adoption of prenatal whole genome sequencing …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… Institutes of Health (NIH) researchers have sequenced the whole genome of a dog that is native to the mountains of … and guard humans as they have for hundreds of years. By sequencing the whole genome of a Fonni's Dog and comparing it to genetic … NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… Advances in genomics are reducing the cost of genome sequencing by a million-fold. … DNA, including a million-fold reduction in the cost for sequencing a human genome. Continually improving the accuracy … sequences. As a result, we now have multiple methods for sequencing DNA quickly and inexpensively (see videos in …