Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history
Segmental duplications (SDs) are operationally defined as> 1 kb stretches of duplicated
DNA with high sequence identity. They arise from copy number variants (CNVs) fixed in the …
DNA with high sequence identity. They arise from copy number variants (CNVs) fixed in the …
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Virtually all genome sequencing efforts in national biobanks, complex and Mendelian
disease programs, and medical genetic initiatives are reliant upon short-read whole …
disease programs, and medical genetic initiatives are reliant upon short-read whole …
1000 Genomes Project promises closer look at variation in human genome
BM Kuehn - Jama, 2008 - jamanetwork.com
ANEW, LARGE-SCALE PUBLIC SCI-ence project is developing a more detailed picture of
variations in the human genome that may one day aid scientists' understanding of the …
variations in the human genome that may one day aid scientists' understanding of the …
Identification of genomic indels and structural variations using split reads
Background Recent studies have demonstrated the genetic significance of insertions,
deletions, and other more complex structural variants (SVs) in the human population. With …
deletions, and other more complex structural variants (SVs) in the human population. With …
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
Structural variants (SVs) are an important source of human genome diversity, but their
functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the …
functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the …
The structure of haplotype blocks in the human genome
Haplotype-based methods offer a powerful approach to disease gene mapping, based on
the association between causal mutations and the ancestral haplotypes on which they …
the association between causal mutations and the ancestral haplotypes on which they …
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …
genetic variation in population samples, creating a foundation for understanding human …
The population genetics of structural variation
Population genetics is central to our understanding of human variation, and by linking
medical and evolutionary themes, it enables us to understand the origins and impacts of our …
medical and evolutionary themes, it enables us to understand the origins and impacts of our …
Reading bits of genetic information: methods for single-nucleotide polymorphism analysis
Information about the genome of our species is accumulating along two dimensions: While
the latitudes of our chromosomes are being charted, crudely at first, but with the expectation …
the latitudes of our chromosomes are being charted, crudely at first, but with the expectation …
Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …