Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …
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 …
Large multiallelic copy number variations in humans
Thousands of genomic segments appear to be present in widely varying copy numbers in
different human genomes. We developed ways to use increasingly abundant whole-genome …
different human genomes. We developed ways to use increasingly abundant whole-genome …
Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-
dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal …
dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal …
Whole-genome CNV analysis: advances in computational approaches
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 …
Free-access copy-number variant detection tools for targeted next-generation sequencing data
I Roca, L González-Castro, H Fernández… - … Research/Reviews in …, 2019 - Elsevier
Copy number variants (CNVs) are intermediate-scale structural variants containing copy
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …
iCopyDAV: Integrated platform for copy number variations—Detection, annotation and visualization
Discovery of copy number variations (CNVs), a major category of structural variations, have
dramatically changed our understanding of differences between individuals and provide an …
dramatically changed our understanding of differences between individuals and provide an …
Making the difference: integrating structural variation detection tools
From prokaryotes to eukaryotes, phenotypic variation, adaptation and speciation has been
associated with structural variation between genomes of individuals within the same …
associated with structural variation between genomes of individuals within the same …
Deciphering new insights into copy number variations as drivers of genomic diversity and adaptation in farm animal species
The basis of all improvement in (re) production performance of animals and plants lies in the
genetic variation. The underlying genetic variation can be further explored through …
genetic variation. The underlying genetic variation can be further explored through …
Seeksv: an accurate tool for somatic structural variation and virus integration detection
Y Liang, K Qiu, B Liao, W Zhu, X Huang, L Li… - …, 2017 - academic.oup.com
Motivation Many forms of variations exist in the human genome including single nucleotide
polymorphism, small insert/deletion (DEL)(indel) and structural variation (SV). Somatically …
polymorphism, small insert/deletion (DEL)(indel) and structural variation (SV). Somatically …