Article

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

2017-12-08

Abstract excerpt

Large-scale population based analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short read whole genome sequencing. However, standard short-read approaches, used primarily due to accuracy, throughput and costs, fail to give a complete picture of a genome. They struggle to identify lar...

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Literature Corpus work: 43952e6a-9f60-52da-b8a3-faedf9aceea3
DOI: 10.1101/230946

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