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 …
Current status of structural variation studies in plants
Structural variations (SVs) including gene presence/absence variations and copy number
variations are a common feature of genomes in plants and, together with single nucleotide …
variations are a common feature of genomes in plants and, together with single nucleotide …
Detection of genomic structural variants from next-generation sequencing data
Structural variants are genomic rearrangements larger than 50 bp accounting for around 1%
of the variation among human genomes. They impact on phenotypic diversity and play a role …
of the variation among human genomes. They impact on phenotypic diversity and play a role …
Whole-genome CNV analysis: advances in computational approaches
M Pirooznia, FS Goes, PP Zandi - Frontiers in genetics, 2015 - frontiersin.org
Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a
significant contribution to human diversity and also play an important role in disease …
significant contribution to human diversity and also play an important role in disease …
Structural variation detection using next-generation sequencing data: a comparative technical review
Structural variations (SVs) are mutations in the genome of size at least fifty nucleotides. They
contribute to the phenotypic differences among healthy individuals, cause severe diseases …
contribute to the phenotypic differences among healthy individuals, cause severe diseases …
[HTML][HTML] The SeqAn C++ template library for efficient sequence analysis: A resource for programmers
Background The use of novel algorithmic techniques is pivotal to many important problems
in life science. For example the sequencing of the human genome (Venter et al., 2001) …
in life science. For example the sequencing of the human genome (Venter et al., 2001) …
FermiKit: assembly-based variant calling for Illumina resequencing data
H Li - Bioinformatics, 2015 - academic.oup.com
FermiKit is a variant calling pipeline for Illumina whole-genome germline data. It de novo
assembles short reads and then maps the assembly against a reference genome to call …
assembles short reads and then maps the assembly against a reference genome to call …
Copy number variation and disease resistance in plants
A Dolatabadian, DA Patel, D Edwards… - Theoretical and Applied …, 2017 - Springer
Plant genome diversity varies from single nucleotide polymorphisms to large-scale
deletions, insertions, duplications, or re-arrangements. These re-arrangements of …
deletions, insertions, duplications, or re-arrangements. These re-arrangements of …
A survey of current methods to detect and genotype inversions
Polymorphic inversions are ubiquitous in humans and they have been linked to both
adaptation and disease. Following their discovery in Drosophila more than a century ago …
adaptation and disease. Following their discovery in Drosophila more than a century ago …
Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
N Louw, N Carstens, Z Lombard… - Frontiers in …, 2023 - frontiersin.org
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …