Thousands of never-before-seen genetic variants in the human genome have been uncovered using a new genome sequencing technology. These discoveries close many human genome mapping gaps that have long resisted sequencing.
Nov 10, 2014
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In 2009, the DNA alphabet expanded. Scientists discovered that an extra letter or "sixth nucleotide" was surprisingly abundant in DNA from stem cells and brain cells.
Oct 30, 2011
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Investigators at Weill Cornell Medicine have assembled the most comprehensive atlas to date of messenger RNA (mRNA) variants in the mouse and human brain. The atlas is an important new resource in understanding brain development, ...
Apr 9, 2024
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Each cell in the body stores its genetic information in DNA in a stable and protected form that is readily accessible for the cell to carry on its activities. Nevertheless, mutations—changes in genetic information—occur ...
Aug 3, 2023
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Much of the human genome is made of regulatory regions that control which genes are expressed at a given time within a cell. Those regulatory elements can be located near a target gene or up to 2 million base pairs away from ...
May 8, 2023
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SARS-CoV-2, the virus that causes COVID-19, seems to have become a permanent presence in our lives. Research from Whitehead Institute Founding Member Rudolf Jaenisch's lab reveals that this may be true on multiple levels. ...
Mar 1, 2023
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Hunting for disease clues in the dark matter of our DNA, scientists have reconstructed the chromosomes of patients with an extremely high number of aberrations in their genome that could alter the expression of nearby genes ...
Jan 18, 2023
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Twenty years ago, after the human genome was first sequenced, geneticists began conducting large genome-wide association studies to identify genomic regions linked to human disease. In addition to DNA sequence, another stable ...
Jan 12, 2023
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Genetic mutations cause hundreds of unsolved and untreatable disorders. Among them, DNA mutations in a small percentage of cells, called mosaic mutations, are extremely difficult to detect because they exist in a tiny percentage ...
Jan 3, 2023
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Researchers at the Center for Genomic Regulation (CRG) have identified a DNA sequence that is crucial for pancreatic differentiation and function—and for the first time—describe how it works.
Aug 22, 2022
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