نتایج جستجو برای: snps typing

تعداد نتایج: 45092  

Journal: :Genome research 2004
Bjarni V Halldórsson Vineet Bafna Ross Lippert Russell Schwartz Francisco M De La Vega Andrew G Clark Sorin Istrail

It is widely hoped that the study of sequence variation in the human genome will provide a means of elucidating the genetic component of complex diseases and variable drug responses. A major stumbling block to the successful design and execution of genome-wide disease association studies using single-nucleotide polymorphisms (SNPs) and linkage disequilibrium is the enormous number of SNPs in th...

Journal: :Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 2015
M Lurdes Pontes Manuel Fondevila Maria Victoria Laréu Rui Medeiros

BACKGROUND DNA profiling with sets of highly polymorphic autosomal short tandem repeat (STR) markers has been applied in various aspects of human identification in forensic casework for nearly 20 years. However, in some cases of complex kinship investigation, the information provided by the conventionally used STR markers is not enough, often resulting in low likelihood ratio (LR) calculations....

Journal: :Nucleic Acids Research 2005
Guo-Hua Zhou Mari Gotou Tomoharu Kajiyama Hideki Kambara

A multiplex single-nucleotide polymorphism (SNP) typing platform using 'bioluminometric assay coupled with terminator [2',3'-dideoxynucleoside triphosphates (ddNTPs)] incorporation' (named 'BATI' for short) was developed. All of the reactions are carried out in a single reaction chamber containing target DNAs, DNA polymerase, reagents necessary for converting PPi into ATP and reagents for lucif...

2011
John D. Gillece James M. Schupp S. Arunmozhi Balajee Julie Harris Talima Pearson Yongpan Yan Paul Keim Emilio DeBess Nicola Marsden-Haug Ron Wohrle David M. Engelthaler Shawn R. Lockhart

A recent emergence of Cryptococcus gattii in the Pacific Northwest involves strains that fall into three primarily clonal molecular subtypes: VGIIa, VGIIb and VGIIc. Multilocus sequence typing (MLST) and variable number tandem repeat analysis appear to identify little diversity within these molecular subtypes. Given the apparent expansion of these subtypes into new geographic areas and their ab...

Journal: :Genetics 2010
Sanzhen Liu Hsin D Chen Irina Makarevitch Rebecca Shirmer Scott J Emrich Charles R Dietrich W Brad Barbazuk Nathan M Springer Patrick S Schnable

Advances in next-generation sequencing technology have facilitated the discovery of single nucleotide polymorphisms (SNPs). Sequenom-based SNP-typing assays were developed for 1359 maize SNPs identified via comparative next-generation transcriptomic sequencing. Approximately 75% of these SNPs were successfully converted into genetic markers that can be scored reliably and used to generate a SNP...

Journal: :Discrete Mathematics 2006
Jens Gramm Tzvika Hartman Till Nierhoff Roded Sharan Till Tantau

Recent technologies for typing single nucleotide polymorphisms (SNPs) across a population are producing genome-wide genotype data for tens of thousands of SNP sites. The emergence of such large data sets underscores the importance of algorithms for large-scale haplotyping. Common haplotyping approaches first partition the SNPs into blocks of high linkage-disequilibrium, and then infer haplotype...

Journal: :Forensic science review 2012
C Phillips

The potential applications of short binary markers to forensic analysis are reviewed. Short binary markers are the most common human genomic variation and include single nucleotide polymorphisms (SNPs) and insertion/deletion polymorphisms (Indels). This review outlines their use and performance in typing highly degraded DNA - the original rationale for developing SNPs for forensic analysis - as...

2015
Agnieszka Paziewska Bozena Cukrowska Michalina Dabrowska Krzysztof Goryca Magdalena Piatkowska Anna Kluska Michal Mikula Jakub Karczmarski Beata Oralewska Anna Rybak Jerzy Socha Aneta Balabas Natalia Zeber-Lubecka Filip Ambrozkiewicz Ewa Konopka Ilona Trojanowska Malgorzata Zagroba Malgorzata Szperl Jerzy Ostrowski Anna Carla Goldberg

Assessment of non-HLA variants alongside standard HLA testing was previously shown to improve the identification of potential coeliac disease (CD) patients. We intended to identify new genetic variants associated with CD in the Polish population that would improve CD risk prediction when used alongside HLA haplotype analysis. DNA samples of 336 CD and 264 unrelated healthy controls were used to...

2014
Mark de Been Val F. Lanza María de Toro Jelle Scharringa Wietske Dohmen Yu Du Juan Hu Ying Lei Ning Li Ave Tooming-Klunderud Dick J. J. Heederik Ad C. Fluit Marc J. M. Bonten Rob J. L. Willems Fernando de la Cruz Willem van Schaik

Third-generation cephalosporins are a class of β-lactam antibiotics that are often used for the treatment of human infections caused by Gram-negative bacteria, especially Escherichia coli. Worryingly, the incidence of human infections caused by third-generation cephalosporin-resistant E. coli is increasing worldwide. Recent studies have suggested that these E. coli strains, and their antibiotic...

Journal: :PLoS ONE 2008
Alienke J. Monsuur Paul I. W. de Bakker Alexandra Zhernakova Dalila Pinto Willem Verduijn Jihane Romanos Renata Auricchio Ana Lopez David A. van Heel J. Bart A Crusius Cisca Wijmenga

BACKGROUND The HLA genes, located in the MHC region on chromosome 6p21.3, play an important role in many autoimmune disorders, such as celiac disease (CD), type 1 diabetes (T1D), rheumatoid arthritis, multiple sclerosis, psoriasis and others. Known HLA variants that confer risk to CD, for example, include DQA1*05/DQB1*02 (DQ2.5) and DQA1*03/DQB1*0302 (DQ8). To diagnose the majority of CD patien...

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