Single nucleotide polymorphisms (SNPs) are sequence variants in which two alternate bases occur at one position. The SNP Consortium is developing a dense map of SNPs in the hope that certain variants ...

SNP array was superior in conclusiveness (99%) compared with karyotyping (64%) with concordant aneuploidy detection results for 296 (99%) of 298 patients. SNP array was more sensitive than MLPA for ...

Combining RNAseq and SNP array outperformed current diagnostic tools to detect all stratifying genetic aberrations in ALL. The turnaround time is <15 days matching major treatment decision time points ...