Article

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

2023-09-26

Abstract excerpt

<h4>Background</h4> Incontinentia pigmenti (IP) is a rare, hereditary multisystemic disorder affecting 1.2 in 100,000 live births, predominantly females. Conventional genetic analyses through short-read sequencing are complicated in case of IP due to the presence of a highly homologous pseudogene. Traditionally, long-range PCR is employed in order to overcome this challenge, however, detection of skewed X-Inactiva...

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Literature Corpus work: 7393f338-8db0-5395-a18a-42e49c9fdfce
DOI: 10.1101/2023.09.26.23295778

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