Tag: enformer

Identification of constrained sequence elements across 239 primate genomes

De novo assembly and repeat-masking To maximize the species diversity of primates in our analyses, we newly sequenced and assembled the genomes of 187 different primate species, initially presented in refs. 11,23, for which no other reference genome assembly was available. In brief, each individual was sequenced with 150 bp paired…

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The Promise of Large Language Models in Genomics

Contributed Commentary by Vanessa Braunstein, NVIDIA  January 27, 2023 | Elucidating information directly from DNA to understand RNA’s and human proteins’ downstream structure and function is the holy grail of nearly a century of molecular biology research. The central dogma of the field—that DNA is transcribed into RNA before translation…

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Deep learning and genomics: predicting gene expression from DNA sequence

The human genome is enormously complex. Before the first draft of the genome was completed in 2003, there was an optimism that knowing its sequence could smoothly translate into cures and treatments for various diseases. Unfortunately, the scientific community quickly discovered that having the DNA sequence is still many steps…

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