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Next Generation Sequencing (NGS) has rapidly advanced genomic research with tremendously increased throughput and reduced cost, through reading the fragmented genome content in massively parallel fashion. We have been able… Click to show full abstract
Next Generation Sequencing (NGS) has rapidly advanced genomic research with tremendously increased throughput and reduced cost, through reading the fragmented genome content in massively parallel fashion. We have been able to sequence and map genomes to reference sequences with relative ease compared to the past. However, this mapping can only be accurately accomplished in the single copy regions of the genome, leaving out most duplicated genes and structural variation. Additionally, assembly of long genomic segments remains elusive since multi copy regions of the genome produce ambiguity when short read sequence is used.
Journal Title: Advances in experimental medicine and biology
Year Published: 2019
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