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As a result, we obtained a catalog of variations within our patient cohort and we provide a map of putative transcription factor binding sites (table 2 and supplementary table S1).
The sequencing of the human genome, together with an ever expanding catalog of variations mapped as single nucleotide polymorphisms (SNPs), has allowed large-scale genome-wide association studies (GWAS), which have the potential to fill the gap in our understanding of the genetic basis of CVD and other common diseases (Hirschhorn and Daly, 2005).
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Last week, the National Institute of Environmental Health Sciences (NIEHS) in North Carolina, which sponsors the project, announced it has produced a catalog of variation in 200-and-counting genes involved in everything from detoxifying pesticides to metabolizing hormones.
The genomic revolution has generated an extraordinary resource, the catalog of variation within the human genome, for investigating biological, evolutionary and medical questions.
Fortunately, the goal of the 1000 Genomes Project (1KGP, www.1000genomes.org) is to dramatically expand the catalog of variation for the next generation of GWAS search tools, with the goal of identifying nearly all variants that exist at any appreciable frequency in human populations.
Deep resequencing of this region using next-generation platforms will be necessary to identify the catalog of variation around the identified associations and identify the underlying causative risk alleles, for both the rs7577650/444A signal and the new independent signal we have identified, rs3815676.
"My dream," Dr. Sebat said, "is that we'll do this kind of high-resolution analysis across tens of thousands of people and have full catalogs of variations that will tell us something not only about schizophrenia but about bipolar disorder, autism, depression, all of these disorders".
This is not at all surprising, since existing catalogs of variations have been constructed using methods that face inherent and unavoidable limitations and can only be addressed by using radically different sequencing technology.
Thus, we created an updated catalog of sequence variations (novel variations and SNPs) that have been described so far in CLL patients.
2008 The 1000 Genomes Project, an international collaboration in which researchers aimed to sequence the genomes of a large number of people from different ethnic groups worldwide with the intent of creating a catalog of genetic variations , began.
The field had already proved pivotal to the handling of large data sets—having enabled, for instance, the compilation of a catalog of genetic variations for the 1000 Genomes Project.
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The phrase "catalog of variations" functions as a noun phrase. It typically acts as a subject, object, or complement in a sentence, referring to a comprehensive compilation of different forms or instances. Ludwig AI confirms its usability in written English.
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