In our cohort of 70 patients, of the 51 previously evaluated as 'normal' on the Agilent 44K array, the SNP array platform disclosed six additional CNV changes, including three in three patients, which may be pathogenic. This suggests that about 6% of individuals classified as 'normal' using ...
Utilization of a Wheat55K SNP array-derived high-density genetic map for high-resolution mapping of quantitative trait loci for important kernel-related traits in common wheatGENE mappingSINGLE nucleotide polymorphismsMOLECULAR cloningWHEAT diseases & pests...
We have used array-based copy number analysis using oligonucleotide single nucleotide polymorphisms (SNP) arrays to analyze the chromosomal structure of a large number of neuroblastoma tumors of different clinical and biological subsets. Results Ninety-two neuroblastoma tumors were analyzed with 50 K and...
We designed a custom oligonucleotide array using a subset of confirmed SNPs between the canonical wild-type Bristol strain N2 and the Hawaiian isolate CB4856, populated with densely overla...
array CGH, XLMR, chromosome X, genomic microarrays, copy number variation, CNV X-LINKED MENTAL RETARDATION The human brain is a highly complex structure, and its nor- mal development and functioning is critically dependent on the proper and tightly regulated activity of a large number of genes....
High‐Resolution Analysis of Genomic Copy Number Changescomparative genomic hybridization (CGHformalin‐fixed and paraffin‐embedded (FFPEarray comparative genomic hybridization (aCGHMultiple ligation‐dependent probe amplification (MLPAsingle nucleotide polymorphism (SNPloss of heterozygosity (LOH...
In order to reveal more of the population history of Csangos, we computed the effective population size (Ne) trends of the two populations using the SNeP algorithm, which calculates Ne from LD data of genome-wide datasets derived from either high-resolution SNP array or next generation sequencin...
More sophisticated (and expensive) sequence-based methods improve resolution; however, even “gold-standard” commercial kits fail to produce the entire coding sequence of individually typed alleles. Allele ambiguity is an increasing problem as many new alleles have been described with SNP variants out...
We obtained the SNP genotype data from HipSci24(Data availability). We also genotyped 112 COVID-19 PBMC samples using the Affymetrix Axiom UK Biobank array (Data availability). We converted the genome coordinates from hg19 to GRCh38 using CrossMap (v.0.5.2;http://crossmap.sourceforge.net/)...
In this study, a subset of 1012 individuals from the Taiwan Biobank (TWB) who underwent both whole-genome SNP array and NGS-based HLA typing were used to establish Taiwanese HLA imputation references. The HIBAG package was used to generate the imputation references for eight HLA loci at a ...