Article

Adaptive long-read and transcriptome sequencing detail a submicroscopic inv(15)(q14q15), generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

2024-10-14

Abstract excerpt

<title>Abstract</title> <p>Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a <italic>de novo</italic> Chromosome 15 paracentric inversion, disrupting <italic>MEIS2</italic> and <italic>NUSAP1</italic>. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing. The breakpoint junction...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: def0a744-5ac1-5666-a334-fce8be97053b
DOI: 10.21203/rs.3.rs-5112053/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Adaptive long-read and transcriptome sequencing detail a submicroscopic inv(15)(q14q15), generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiencyDOI 10.21203/rs.3.rs-5112053/v1Read

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangementsSemantic proximity Read

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.Semantic proximity Read

Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read dataSemantic proximity Read

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.Semantic proximity Read

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

Investigation of a Pathogenic Inversion in<i>UNC13D</i>and Comprehensive Analysis of Chromosomal Inversions Across Diverse DatasetsSemantic proximity Read

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionSemantic proximity Read

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencingSemantic proximity Read

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.Semantic proximity Read

Fine-scale structural variation of the human genome.Semantic proximity Read

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apesSemantic proximity Read

Benchmark for simple and complex genome inversionsSemantic proximity Read