ALBERT

All Library Books, journals and Electronic Records Telegrafenberg

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Publication Date: 2001-11-27
    Description: Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Patil, N -- Berno, A J -- Hinds, D A -- Barrett, W A -- Doshi, J M -- Hacker, C R -- Kautzer, C R -- Lee, D H -- Marjoribanks, C -- McDonough, D P -- Nguyen, B T -- Norris, M C -- Sheehan, J B -- Shen, N -- Stern, D -- Stokowski, R P -- Thomas, D J -- Trulson, M O -- Vyas, K R -- Frazer, K A -- Fodor, S P -- Cox, D R -- New York, N.Y. -- Science. 2001 Nov 23;294(5547):1719-23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11721056" target="_blank"〉PubMed〈/a〉
    Keywords: Algorithms ; Alleles ; Animals ; Chromosomes, Human, Pair 21/*genetics ; Continental Population Groups/genetics ; Ethnic Groups/genetics ; Gene Frequency/genetics ; Genetic Variation/genetics ; Genome, Human ; Haplotypes/*genetics ; Humans ; Hybrid Cells/metabolism ; Mutation/genetics ; Oligonucleotide Array Sequence Analysis/*methods ; Polymorphism, Single Nucleotide/*genetics ; Random Allocation ; Sensitivity and Specificity
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 2
    Publication Date: 2007-05-05
    Description: Coronary heart disease (CHD) is a major cause of death in Western countries. We used genome-wide association scanning to identify a 58-kilobase interval on chromosome 9p21 that was consistently associated with CHD in six independent samples (more than 23,000 participants) from four Caucasian populations. This interval, which is located near the CDKN2A and CDKN2B genes, contains no annotated genes and is not associated with established CHD risk factors such as plasma lipoproteins, hypertension, or diabetes. Homozygotes for the risk allele make up 20 to 25% of Caucasians and have a approximately 30 to 40% increased risk of CHD.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2711874/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2711874/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉McPherson, Ruth -- Pertsemlidis, Alexander -- Kavaslar, Nihan -- Stewart, Alexandre -- Roberts, Robert -- Cox, David R -- Hinds, David A -- Pennacchio, Len A -- Tybjaerg-Hansen, Anne -- Folsom, Aaron R -- Boerwinkle, Eric -- Hobbs, Helen H -- Cohen, Jonathan C -- HL-066681/HL/NHLBI NIH HHS/ -- HL-082896/HL/NHLBI NIH HHS/ -- R01 HL082896/HL/NHLBI NIH HHS/ -- R01 HL082896-02/HL/NHLBI NIH HHS/ -- New York, N.Y. -- Science. 2007 Jun 8;316(5830):1488-91. Epub 2007 May 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada. rmcpherson@ottawaheart.ca〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17478681" target="_blank"〉PubMed〈/a〉
    Keywords: Aged ; *Alleles ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 9/*genetics ; Coronary Artery Disease/genetics ; Coronary Disease/*genetics ; Ethnic Groups/genetics ; Female ; Gene Frequency ; Genes, p16 ; *Genetic Predisposition to Disease ; Genetic Variation ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; *Polymorphism, Single Nucleotide ; Proportional Hazards Models ; RNA, Untranslated/genetics ; Regulatory Elements, Transcriptional ; Risk Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 3
    Publication Date: 2005-02-19
    Description: Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hinds, David A -- Stuve, Laura L -- Nilsen, Geoffrey B -- Halperin, Eran -- Eskin, Eleazar -- Ballinger, Dennis G -- Frazer, Kelly A -- Cox, David R -- New York, N.Y. -- Science. 2005 Feb 18;307(5712):1072-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Perlegen Sciences Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15718463" target="_blank"〉PubMed〈/a〉
    Keywords: African Americans/*genetics ; Algorithms ; Asian Continental Ancestry Group/*genetics ; Case-Control Studies ; Chromosome Mapping ; Databases, Genetic ; European Continental Ancestry Group/*genetics ; Female ; Gene Frequency ; Genetic Markers ; Genetic Predisposition to Disease ; *Genetic Variation ; *Genome, Human ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Multifactorial Inheritance ; *Polymorphism, Single Nucleotide ; Recombination, Genetic ; Risk Factors ; Selection, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 4
    Publication Date: 2007-07-21
    Description: The genomes of individuals from the same species vary in sequence as a result of different evolutionary processes. To examine the patterns of, and the forces shaping, sequence variation in Arabidopsis thaliana, we performed high-density array resequencing of 20 diverse strains (accessions). More than 1 million nonredundant single-nucleotide polymorphisms (SNPs) were identified at moderate false discovery rates (FDRs), and approximately 4% of the genome was identified as being highly dissimilar or deleted relative to the reference genome sequence. Patterns of polymorphism are highly nonrandom among gene families, with genes mediating interaction with the biotic environment having exceptional polymorphism levels. At the chromosomal scale, regional variation in polymorphism was readily apparent. A scan for recent selective sweeps revealed several candidate regions, including a notable example in which almost all variation was removed in a 500-kilobase window. Analyzing the polymorphisms we describe in larger sets of accessions will enable a detailed understanding of forces shaping population-wide sequence variation in A. thaliana.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Clark, Richard M -- Schweikert, Gabriele -- Toomajian, Christopher -- Ossowski, Stephan -- Zeller, Georg -- Shinn, Paul -- Warthmann, Norman -- Hu, Tina T -- Fu, Glenn -- Hinds, David A -- Chen, Huaming -- Frazer, Kelly A -- Huson, Daniel H -- Scholkopf, Bernhard -- Nordborg, Magnus -- Ratsch, Gunnar -- Ecker, Joseph R -- Weigel, Detlef -- New York, N.Y. -- Science. 2007 Jul 20;317(5836):338-42.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tubingen, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17641193" target="_blank"〉PubMed〈/a〉
    Keywords: Algorithms ; Arabidopsis/*genetics ; Base Sequence ; Chromosomes, Plant/genetics ; Computational Biology ; Gene Frequency ; Genes, Plant ; *Genetic Variation ; *Genome, Plant ; Molecular Sequence Data ; *Polymorphism, Genetic ; *Polymorphism, Single Nucleotide ; Selection, Genetic ; Sequence Analysis, DNA
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 5
    Publication Date: 2005-04-01
    Print ISSN: 1061-4036
    Electronic ISSN: 1546-1718
    Topics: Biology , Medicine
    Published by Springer Nature
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...