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We are sequencing a gene (SERPINA2, NM_006220.2), which is present only as a psuedogene in hg19 reference. Bases for two and a half of the four exons are actually present in the reference and will align, but the remaining bases are completely deleted (this is a normal polymorphism). This gene is being sequenced as part of a panel, and we'd like to preserve the reference coordinates. Does anyone have any recommendations on how to modify the reference or approach the alignment?
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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 -
Despite advancements in sequencing platforms and related sample preparation technologies, certain sample types continue to present significant challenges that can compromise sequencing results. Pedro Echave, Senior Manager of the Global Business Segment at Revvity, explained that the success of a sequencing experiment ultimately depends on the amount and integrity of the nucleic acid template (RNA or DNA) obtained from a sample. “The better the quality of the nucleic acid isolated...03-22-2024, 06:39 AM