Results 261 to 270 of about 912,126 (302)

Molecular Karyotyping: From Microscope to SNP Arrays

Hormone Research in Paediatrics, 2011
Chromosomal rearrangements are an important cause of distinctive and recognizable clinical phenotypes. For many years conventional karyotyping has been a successful tool to detect such chromosomal rearrangements. However, this technique has a limited resolution of 5–10 Mb.
Gijsbers, A.C.J., Ruivenkamp, C.A.L.
openaire   +4 more sources

SNP Arrays for Species Identification in Salmonids

2016
The use of SNP genotyping microarrays, developed in one species to analyze a closely related species for which genomic sequence information is scarce, enables the rapid development of a genomic resource (SNP information) without the need to develop new species-specific markers.
Roman, Wenne, Agata, Drywa, Matthew, Kent, Kristil Kindem, Sundsaasen, Sigbjørn, Lien   +4 more
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Correction of database SNP accession numbers misassigned to SNPs of the 8K IRSC apple SNP array

Tree Genetics & Genomes, 2021
Accurate SNP locus identifiers are essential for the correct matching and aggregation of multiple historical datasets. The National Center for Biotechnology Information (NCBI) issued unique "submitted SNP identification" numbers (sslDs) for every published SNP submitted to its database.
Daniel A. Edge-Garza, Miguel Villamil-Castro, Dorrie Main, Craig Hardner   +3 more
openaire   +3 more sources

Analyzing Cancer Samples with SNP Arrays

2011
Single nucleotide polymorphism (SNP) arrays are powerful tools to delineate genomic aberrations in cancer genomes. However, the analysis of these SNP array data of cancer samples is complicated by three phenomena: (a) aneuploidy: due to massive aberrations, the total DNA content of a cancer cell can differ significantly from its normal two copies; (b ...
Peter, Van Loo, Gro, Nilsen, Silje H, Nordgard, Hans Kristian Moen, Vollan, Anne-Lise, Børresen-Dale, Vessela N, Kristensen, Ole Christian, Lingjærde   +6 more
openaire   +2 more sources

Copy Number and SNP Arrays in Clinical Diagnostics

Annual Review of Genomics and Human Genetics, 2011
The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic abnormalities has revolutionized the clinical diagnostic approach to individuals with intellectual disability, neurobehavioral phenotypes, and congenital malformations.
Christian P, Schaaf, Joanna, Wiszniewska, Arthur L, Beaudet   +2 more
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A NEW GENOTYPE CALLING METHOD FOR AFFYMETRIX SNP ARRAYS

Journal of Bioinformatics and Computational Biology, 2011
Current genotype-calling methods such as Robust Linear Model with Mahalanobis Distance Classifier (RLMM) and Corrected Robust Linear Model with Maximum Likelihood Classification (CRLMM) provide accurate calling results for Affymetrix Single Nucleotide Polymorphisms (SNP) chips.
Bilin Fu, Jin Xu
openaire   +2 more sources

Universal Tag Arrays in Forensic SNP Analysis

2004
Microarray-based single nucleotide polymorphism (SNP) genotyping enables simultaneous and rapid detection of a large number of markers and is thus an attractive method for forensic individual acid identification. This assay relies on a one-color detection system and minisequencing in solution before hybridization to universal tag arrays.
Marie, Allen, Anna-Maria, Divne
openaire   +2 more sources

Contribution of SNP arrays in diagnosis of deletion 2p11.2–p12

Gene, 2012
Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Furthermore most cases with deletion in 2p11.2-p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions.
Rocca, Maria Santa, Fabretto, Antonella, Faletra, Flavio, Carlet, Ombretta, Skabar, Aldo, Gasparini, Paolo, Pecile, Vanna   +6 more
openaire   +4 more sources

Estimation of Missing Values in SNP Array

2014
DNA microarray usage in genetics is rapidly proliferating, generating huge amount of data. It is estimated that around 5-20% of measurements do not succeed, leading to missing values in the data destined for further analysis. Missing values in further microarray analysis lead to low reliability, therefore there is a need for effective and efficient ...
openaire   +1 more source

REFET replication for ISFET-based SNP detection arrays

2013 IEEE International Symposium on Circuits and Systems (ISCAS2013), 2013
In-pixel differential measurement with calibration for chemical reaction occurrence detection, particularly for pH-based Single Nucleotide Polymorphism (SNP) detection and genotyping arrays is presented. The proposed work adjusts the offset of upto 130mV between the ISFETs and the REFET in a calibration step and cancels out common mode noise by ...
Mohammadreza Sohbati, Pantelis Georgiou, Christofer Toumazou   +2 more
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