Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) ...
Autism Genetics: Emerging Data from Genome-wide Copy-number and Single Nucleotide Polymorphism Scans
Single nucleotide polymorphism microarrays have introduced the possibility of unbiased association screens, or GWAS, but can also be utilized for very-high-density linkage analysis. The first use of ...
The human genome project was undertaken to determine the human DNA sequence and analyze variation among individuals. To make use of this information, tools were developed that could collect and ...
SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Twist Bioscience Corporation (Nasdaq: TWST), a company enabling customers to succeed through its offering of high-quality synthetic DNA using its silicon ...
A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation.
A biologist at Boston College and a team of fellow researchers around the world have made some progress in stopping a mass murderer. The biologist is Marc A.T. Muskavitch, and the serial killer in ...
Genome-wide association studies using genotyping microarrays have long been a critical tool in understanding how genetic variation impacts disease. The problem is, most of these studies are based on ...
Autism Genetics: Emerging Data from Genome-wide Copy-number and Single Nucleotide Polymorphism Scans
Copy number variants (CNVs) are duplications or deletions of at least 1 kb of genetic material and have recently been recognized to make a large contribution to genetic diversity (reviewed in [3]).
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