Article

Characterization of segmental duplications and large inversions using Linked-Reads

2018-08-17

Abstract excerpt

Many algorithms aimed at characterizing genomic structural variation (SV) have been developed since the inception of high-throughput sequencing. However, the full spectrum of SVs in the human genome is not yet assessed. Most of the existing methods focus on discovery and genotyping of deletions, insertions, and mobile elements. Detection of balanced SVs with no gain or loss of genomic segments (e.g., inversions) i...

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Literature Corpus work: d3e950c8-b8a8-5279-963a-f76acd7e365c
DOI: 10.1101/394528

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