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Article

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

American journal of medical genetics. Part A - 1 May 2024

Del Gobbo Giulia F, Wang Xueqi, Couse Madeline, Mackay Layla, Goldsmith Claire, Marshall Aren E, Liang Yijing, Lambert Christine, Zhang Siyuan, Dhillon Harsharan, Fanslow Cairbre, Rowell William J, Marshall Christian R, Kernohan Kristin D, Boycott Kym M

Abstract excerpt

Despite significant advancements in rare genetic disease diagnostics, many patients with rare genetic disease remain without a molecular diagnosis. Novel tools and methods are needed to improve the detection of disease-associated variants and understand the genetic basis of many rare diseases. Long-read genome sequencing provides improved sequencing in highly repetitive, homologous, and low-complexity regions,...

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PMID: 38131126
DOI: 10.1002/ajmg.a.63522

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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