Objective: Our goal was to evaluate the influence of quality control (QC) decisions using two genotype calling algorithms, CRLMM and Birdseed, designed for the Affymetrix SNP Array 6.0. Methods: ...
Intellectual disability (ID), frequently associated with multiple congenital anomalies (MCA), is defined as a cluster of syndromes and disorders characterized by low intelligence and associated ...
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 ...
PAM50 intrinsic subtyping and pathologic responses to neoadjuvant trastuzumab-based chemotherapy in HER2-positive breast cancer. Background: Early detection and monitoring the progress of common ...
A phase I, open-label, dose-escalation study to evaluate the safety, pharmacokinetics, and pharmacodynamics of oral azacitidine in subjects with myelodysplastic syndromes (MDS) or acute myelogenous ...
Affymetrix, Inc. has announced that it has released a data set based on extensive validation of novel SNPs from the 1000 Genomes Project. This data will give researchers access to more rare mutations ...
Using SNP-CGH to Profile for Amplifications, Duplications, and Deletions The beginnings of personalized medicine have been forged by recent advances in SNP genotyping technologies. It is now possible ...
The CYP2D6 enzyme metabolizes approximately 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest. Polymorphisms in CYP2D6 can alter an individual’s response to a wide range ...