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Topic: Genomic Testing

Title: Genomic diagnostics within a medically underserved population: efficacy and implications Published: July 20, 2017 Publication: Genetics in Medicine

Authors: Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG

Abstract:
We integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.
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Title: Identification of disease causing loci using an array-based genotyping approach on pooled DNA Published: September 30, 2005 Publication: BMC Genomics

Authors: Craig DW, Huentelman MJ, Hu-Lince D, Zismann VL, Kruer MC, Lee AM, Puffenberger EG, Pearson JM, Stephan DA

Abstract:
Pooling genomic DNA samples within clinical classes of disease followed by genotyping on whole-genome SNP microarrays, allows for rapid and inexpensive genome-wide association studies. Key to the success of these studies is the accuracy of the allelic frequency calculations, the ability to identify false-positives arising from assay variability and the ability to better resolve association signals through analysis of neighbouring SNPs.
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