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News Release

Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions

CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.

… CMG, or others, submit DNA samples to the centers for DNA sequencing - or more specifically, exome or whole genome … were able to move exome sequencing into efficient, large-scale production. "We knew that discovery would depend on …

News Release

Researchers assemble the first complete sequence of a human Y chromosome

The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.

… in human sexual development are spread across the genome and very complex, giving rise to the array of human sex … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …

Educational Resources

Linkage

Linkage is the close association of genes or other DNA sequences on the same chromosome.

… sequences on the same chromosome. … DNA Sequence, Linkage Analysis, Family Health History, Chromosome … Linkage, as related to genetics and genomics, refers to the closeness of genes or other DNA …

News Release

NHGRI selects Adam Phillippy as first director of new Center for Genomics and Data Science Research

NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.

… Phillippy to provide scientific leadership and shape direction of computational genomics in institute’s … as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … himself as an expert in genome sequence assembly and analysis not only within NIH but in the broader scientific …

Research Funding

Clinical Sequencing Evidence-Generating Research (CSER)

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 … Clinic Richard Sharp Presenting diagnostic results from large-scale clinical mutation testing R01 Columbia University Paul …

The Genomics Landscape

20 years later, genomicists remember the draft human genome sequence

In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.

… had also accomplished a series of other goals, including sequencing the genomes of a set of model organisms. In fact, … is hopeful about the COVID-19 vaccine candidates beginning large scale clinical trials this summer Finding antibodies that …

News Release

One patient's diagnostic odyssey ends at the NIH Clinical Center

Genomic analyses turned up genes that belong to inflammatory pathways.

… most of his days in extreme pain. He could barely walk and used a wheelchair. He saw numerous doctors in his … his lab at NHGRI. Dr. Kastner's team wanted to use genome sequencing to try to pinpoint if Rohith's condition was … somewhere else. From using mechanistic studies and genome sequencing to inform your patient care - that's unique to …

News Release

NHGRI researchers generate complete human X chromosome sequence

NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.

… sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of … incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … a method that leaves DNA molecules largely intact. These large DNA molecules were then analyzed by two different …

News Release

Researchers generate the first complete, gapless sequence of a human genome

Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.

… understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … Aganezov et al. A complete reference genome improves analysis of human genetic variation . Science 376. Doi: …

Staff

Lin Lei

Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health.

… Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National Human Genome Research … she is the chef, receiving orders from the group members and making the dishes. Before joining CRGGH, Lin was a … ExonHit Therapeutics, conducting research using Agilent and Affymetrix microarrays for both clients and the company’s …