Advances in high-throughput genotyping technologies have afforded researchers the opportunity to study ever-increasing numbers of SNP in animal genomes. However, many studies encounter difficulties in obtaining sufficient quantities of high-quality DNA for such analyses, particularly when the source biological material is limited or degraded. The recent development of in vitro whole-genome amplification approaches has permitted researchers to circumvent these challenges by increasing the amount of usable DNA in normally small-quantity samples. Here, we assess the performance of whole-genome amplification products generated from ovine genomic DNA using a high-throughput SNP genotyping platform, the newly developed Illumina ovineSNP50 BeadChip. Our results demonstrate a high genotype call rate for conventional genomic DNA and whole-genome amplified genomic DNA. The data also reveal an exceptionally high concordance rate ( > or = 99%) between the genotypes generated from whole-genome amplified products and their conventional genomic DNA counterparts. This study supports the use of whole-genome amplification as a viable solution for the analysis of high-density SNP genotypic data using compromised or limited starting material.
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http://dx.doi.org/10.2527/jas.2009-2723 | DOI Listing |
HLA
January 2025
HLA and Histocompatibility Laboratory, CHRU de Nancy, Vandœuvre-lès-Nancy, France.
The novel allele HLA-DQA1*02:39 differs from HLA-DQA1*02:01:01:01 by one non-synonymous nucleotide substitution in exon 2.
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January 2025
Histocompatibilidad, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain.
Description of the novel HLA-DQA1*05:118 and -DQB1*03:01:01:73 alleles.
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January 2025
Strand Life Sciences, Bangalore, Karnataka, India.
The novel HLA-DQB1*06:469 allele differs from HLA-DQB1*06:01:01:01 by one nucleotide substitution in codon 187 in exon 3.
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January 2025
HLA and Histocompatibility Laboratory, CHRU de Nancy, Vandœuvre-lès-Nancy, France.
The novel HLA-DRB1*07:159 allele differs from HLA-DRB1*07:01:01:01 by one non-synonymous nucleotide substitution in exon 2.
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February 2025
Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Background: To date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation.
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