Structural variant calling: the long and the short of it
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …
and molecular biology, elucidating their role in various diseases, regulation of gene …
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
The structural variation landscape in 492 Atlantic salmon genomes
Structural variants (SVs) are a major source of genetic and phenotypic variation, but remain
challenging to accurately type and are hence poorly characterized in most species. We …
challenging to accurately type and are hence poorly characterized in most species. We …
Pangenome graphs improve the analysis of structural variants in rare genetic diseases
Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical
next-generation sequencing due to the difficulty of detecting structural variation (SV) in all …
next-generation sequencing due to the difficulty of detecting structural variation (SV) in all …
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
CJ Record, M Pipis, M Skorupinska, J Blake, R Poh… - Brain, 2024 - academic.oup.com
Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …
HiNT: a computational method for detecting copy number variations and translocations from Hi-C data
The three-dimensional conformation of a genome can be profiled using Hi-C, a technique
that combines chromatin conformation capture with high-throughput sequencing. However …
that combines chromatin conformation capture with high-throughput sequencing. However …
Expanding the conservation genomics toolbox: incorporating structural variants to enhance genomic studies for species of conservation concern
Structural variants (SVs) are large rearrangements (> 50 bp) within the genome that impact
gene function and the content and structure of chromosomes. As a result, SVs are a …
gene function and the content and structure of chromosomes. As a result, SVs are a …
Uncovering missing heritability in rare diseases
T Maroilley, M Tarailo-Graovac - Genes, 2019 - mdpi.com
The problem of 'missing heritability'affects both common and rare diseases hindering:
discovery, diagnosis, and patient care. The 'missing heritability'concept has been mainly …
discovery, diagnosis, and patient care. The 'missing heritability'concept has been mainly …