نتایج جستجو برای: reference panel

تعداد نتایج: 352935  

Journal: :Clinical chemistry 2009
W Greg Miller Linda M Thienpont Katleen Van Uytfanghe Penelope M Clark Patrik Lindstedt Göran Nilsson Michael W Steffes

BACKGROUND Measurement of circulating insulin may improve the classification and management of diabetes mellitus and assist in treating people with insulin resistance. METHODS A work group convened by the American Diabetes Association evaluated results for a panel of 39 single donor sera measured by 10 commercial insulin methods from 9 manufacturers against an isotope dilution-liquid chromato...

Journal: :Genetic epidemiology 2012
Eric Yi Liu Steven Buyske Aaron K Aragaki Ulrike Peters Eric Boerwinkle Chris Carlson Cara Carty Dana C Crawford Jeff Haessler Lucia A Hindorff Loic Le Marchand Teri A Manolio Tara Matise Wei Wang Charles Kooperberg Kari E North Yun Li

Genetic imputation has become standard practice in modern genetic studies. However, several important issues have not been adequately addressed including the utility of study-specific reference, performance in admixed populations, and quality for less common (minor allele frequency [MAF] 0.005-0.05) and rare (MAF < 0.005) variants. These issues only recently became addressable with genome-wide ...

2012
Michel LUBRANO

The Easterlin paradox questions the way income can enter a utility function. Individuals are said to be sensitive not to the level of their income, but to their relative income as measured by the ratio between their income and the mean income of their reference group. We propose a reference group based on human capital and relate well-being to income dynamics using panel data with income variat...

2015
Donghyung Lee T. Bernard Bigdeli Vernell S. Williamson Vladimir I. Vladimirov Brien P. Riley Ayman H. Fanous Silviu-Alin Bacanu

MOTIVATION To increase the signal resolution for large-scale meta-analyses of genome-wide association studies, genotypes at unmeasured single nucleotide polymorphisms (SNPs) are commonly imputed using large multi-ethnic reference panels. However, the ever increasing size and ethnic diversity of both reference panels and cohorts makes genotype imputation computationally challenging for moderatel...

Journal: :Journal of clinical microbiology 2001
J S Ellis M C Zambon

Transfer of influenza A viruses from animal hosts to man may lead to the emergence of new human pandemic strains. The early detection and identification of such events are therefore paramount in the surveillance of influenza viruses. To detect and partially characterize influenza A viruses from different animal species, a combined reverse transcription (RT)-PCR heteroduplex mobility assay (HMA)...

2011
Li Li Yun Li Sharon R. Browning Brian L. Browning Andrew J. Slater Xiangyang Kong Jennifer L. Aponte Vincent E. Mooser Stephanie L. Chissoe John C. Whittaker Matthew R. Nelson Margaret Gelder Ehm

Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not been comprehensively studied. We utilized 8865 human samples with high depth resequencing data for the exons and flanking regions of 202 genes and Genome-Wide Association Study (GWAS) data to chara...

2015
Nicky D’Haene Marie Le Mercier Nancy De Nève Oriane Blanchard Mélanie Delaunoy Hakim El Housni Barbara Dessars Pierre Heimann Myriam Remmelink Pieter Demetter Sabine Tejpar Isabelle Salmon Aldo Scarpa

OBJECTIVE Recently, Next Generation Sequencing (NGS) has begun to supplant other technologies for gene mutation testing that is now required for targeted therapies. However, transfer of NGS technology to clinical daily practice requires validation. METHODS We validated the Ion Torrent AmpliSeq Colon and Lung cancer panel interrogating 1850 hotspots in 22 genes using the Ion Torrent Personal G...

Journal: :Journal of clinical microbiology 1998
M A Pfaller S Arikan M Lozano-Chiu Y Chen S Coffman S A Messer R Rennie C Sand T Heffner J H Rex J Wang N Yamane

A method using a commercially prepared colorimetric microdilution panel (ASTY; Kyokuto Pharmaceutical Industrial Co., Ltd.) was compared in four different laboratories with the National Committee for Clinical Laboratory Standards (NCCLS) reference microdilution method by testing 802 clinical isolates of Candida spp. (C. albicans, C. glabrata, C. tropicalis, C. parapsilosis, C. krusei, C. lusita...

Journal: :Blood 2010
Helen E White Paul Matejtschuk Peter Rigsby Jean Gabert Feng Lin Y Lynn Wang Susan Branford Martin C Müller Nathalie Beaufils Emmanuel Beillard Dolors Colomer Dana Dvorakova Hans Ehrencrona Hyun-Gyung Goh Hakim El Housni Dan Jones Veli Kairisto Suzanne Kamel-Reid Dong-Wook Kim Stephen Langabeer Edmond S K Ma Richard D Press Giuliana Romeo Lihui Wang Katerina Zoi Timothy Hughes Giuseppe Saglio Andreas Hochhaus John M Goldman Paul Metcalfe Nicholas C P Cross

Serial quantitation of BCR-ABL mRNA levels is an important indicator of therapeutic response for patients with chronic myelogenous leukemia and Philadelphia chromosome-positive acute lymphoblastic leukemia, but there is substantial variation in the real-time quantitative polymerase chain reaction methodologies used by different testing laboratories. To help improve the comparability of results ...

2013
Muriel E de Boer Tjalf E de Boer Janine Mariën Martijn JTN Timmermans Benjamin Nota Nico M van Straalen Jacintha Ellers

Genomic studies measuring transcriptional responses to changing environments and stress currently make their way into the field of evolutionary ecology and ecotoxicology. To investigate a small to medium number of genes or to confirm large scale microarray studies, Quantitative Reverse Transcriptase PCR (RT-qPCR) can achieve high accuracy of quantification when key standards, such as normalizat...

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