The first extensive catalog of structural human variation was recently released. It showed that large stretches of genomic DNA that vary considerably in copy number were extremely abundant. Thus it is conceivable that they play a major role in functional variation. Consistently, genomic insertions and deletions were shown to contribute to phenotypic differences by modifying not only the expression levels of genes within the aneuploid segments but also of normal copy-number neighboring genes. In this report, we review the possible mechanisms behind this latter effect
The study of variation found in DNA is fundamental in human genetic studies. Single nucleotide polym...
The very recent availability of fully sequenced individual human genomes is a major revolution in bi...
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in...
Structural variation includes many different types of chromosomal rearrangement and encompasses mill...
The near completeness of human chromosome sequences is facilitating accurate characterization and as...
Variability in the human genome has far exceeded expectations. In the course of the past three years...
Genetic variation among individual humans occurs on many different scales, ranging from gross altera...
AbstractRecent advances in fast and inexpensive DNA sequencing have enabled the extensive study of g...
Structural and quantitative chromosomal rearrangements, collectively referred to as structural varia...
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors...
Copy number variants (CNVs) influence the expression of genes that map not only within the rearrange...
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as w...
Copy number variants (CNVs) influence the expression of genes that map not only within the rearrange...
<p>Whole genome data was utilized to determine copy number alterations and structural rearrangements...
Anthropological geneticists have successfully used single-nucleotide and short tandem repeat variati...
The study of variation found in DNA is fundamental in human genetic studies. Single nucleotide polym...
The very recent availability of fully sequenced individual human genomes is a major revolution in bi...
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in...
Structural variation includes many different types of chromosomal rearrangement and encompasses mill...
The near completeness of human chromosome sequences is facilitating accurate characterization and as...
Variability in the human genome has far exceeded expectations. In the course of the past three years...
Genetic variation among individual humans occurs on many different scales, ranging from gross altera...
AbstractRecent advances in fast and inexpensive DNA sequencing have enabled the extensive study of g...
Structural and quantitative chromosomal rearrangements, collectively referred to as structural varia...
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors...
Copy number variants (CNVs) influence the expression of genes that map not only within the rearrange...
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as w...
Copy number variants (CNVs) influence the expression of genes that map not only within the rearrange...
<p>Whole genome data was utilized to determine copy number alterations and structural rearrangements...
Anthropological geneticists have successfully used single-nucleotide and short tandem repeat variati...
The study of variation found in DNA is fundamental in human genetic studies. Single nucleotide polym...
The very recent availability of fully sequenced individual human genomes is a major revolution in bi...
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in...