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We have done genotyping from targeted DNA sequencing of 600 related human samples. The targeted regions are mainly the exons of several hundred imprinted genes and the total size of the panel is 4Mb. About 200 samples were in trios and we were able to phase their variants. We are wondering if we could use these genotyping and phasing data to impute the SNPs beyond the targeted regions, e.g. several Kb or Mb upstream/downstream of the genes we targeted in the panel. All the sequenced samples came from a small local population so it's expected that they share many common haplotypes. Will this help imputation? If it's feasible, which pipeline/tools should be used? Thanks.
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The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...04-22-2024, 07:01 AM -
Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained...04-04-2024, 04:25 PM