Decoding Complex Genome Sequences: Researchers Develop Algorithm for Accurate Analysis

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Over the last 10 years, breakthroughs in understanding the genetic instructions passed from parent to offspring have put researchers closer than ever before to efficiently decoding DNA with 100% accuracy. However, this analysis approach, called genome sequencing, still poses a challenge for certain regions of the genome.

Breakthroughs in genetic research have brought scientists closer to accurately decoding DNA with 100% accuracy. However, certain complex regions of the genome still pose a challenge for accurate sequencing. A group of researchers from Penn State School of Electrical Engineering and Computer Science has developed an algorithm, called 'CloseRead,' to streamline the analysis of these difficult regions, focusing on the ones responsible for an organism's immune system.

They tested CloseRead on 74 genome sequences and found it to be more accurate in identifying errors compared to existing verification tools. The team's research was published in Genome Biology.

Mammalian genomes consist of billions of nucleotides, making accurate sequencing a challenging task. The algorithm reconstructs complete nucleotide sequences based on smaller subsequences, but errors can occur during this process, complicating the analysis.

With recent advancements in long-read sequencing, scientists can now sequence more genetic information with unprecedented accuracy. This has led to an increase in mammalian genome data generation, allowing researchers to better understand the genetic blueprint of organisms.

CloseRead was specifically developed to verify complex regions like the immunoglobulin (IG) loci, responsible for the production of antibodies. The tool scans each nucleotide individually, identifying mismatches and breaks in coverage in the assembly. This helps simplify the verification process for researchers.

Understanding complex genome regions like the IG loci can accelerate immunogenomics, biomedical research, genetics, and biology as a whole. By comparing genomes of different organisms, researchers can better understand the connection between genotype and visible traits.

While CloseRead focuses on the IG loci, it has the potential to be applied to other complex regions of genomes in the future. The technology aims to eliminate the need for manual review in genome sequencing, but researchers emphasize the importance of careful analysis in interpreting new genome sequences.



Source: Phys.org
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