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Showing 1–3 of 3 results

Advanced filters: Author: Fabio Cunial Clear advanced filters

K-mer analysis of long-read alignment pileups for structural variant genotyping

Accurately genotyping structural variant (SV) alleles is crucial to genomics research. Here the authors present a rapid and accurate method that avoids common errors seen with other genotypers, particularly for neighboring SVs within and across samples.

Adam C. English
Fabio Cunial
Fritz J. Sedlazeck
ResearchOpen Access04 Apr 2025
Nature Communications

Volume: 16, P: 1-11
Cue: a deep-learning framework for structural variant discovery and genotyping

Cue achieves versatile and performant structural variant calling and genotyping using a deep-learning approach.

Victoria Popic
Chris Rohlicek
Anant Maheshwari
Research23 Mar 2023
Nature Methods

Volume: 20, P: 559-568
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Analysis of the FGF14-SCA27B repeat locus identifies a common 5′-flanking insertion that represents the major allele, is present exclusively on nonpathogenic alleles, enhances repeat stability and increases chromatin accessibility.

David Pellerin
Giulia F. Del Gobbo
Matt C. Danzi
Research27 Jun 2024
Nature Genetics

Volume: 56, P: 1366-1370