Article

Identifying long indels in exome sequencing data of patients with intellectual disability

2018-01-15

Abstract excerpt

Exome sequencing is a powerful tool for detecting both single and multiple nucleotide variation genome wide. However long indels, in the size range 20 – 200bp, remain difficult to accurately detect. By assessing a set of common exonic long indels, we estimate the sensitivity of long indel detection in exome sequencing data to be 92%. To clarify the role of pathogenic long indels in patients with intellectual disab...

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Literature Corpus work: 08b4acd5-e80a-5d27-a778-01084a0258e1
DOI: 10.1101/244756

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