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We had the tools to see whether copy number changes found in kids with autism were causing the syndrome," said Mills.
The Ambry CancerArray(TM) will not only detect large copy number changes, but simultaneously will identify very small aberrations, near the single-exon level, in the most important cancer genes associated with germline and somatic variations.
One of the studies, coauthored by State and his colleagues, included 1,124 families and estimated the number of genome regions in which copy number changes were linked to autism at 130 to 234.
To understand the progress researchers have made using microarrays to study cancer genetics, it's first necessary to explain the types of mutations they're looking for: Chromosomal Copy Number Changes Normally, you get one chromosome from each parent.
Genome Sequencing Centers and Cancer Genome Characterization Centers will sequence genomic targets to discover genetic mutations as well as identify larger-scale genomic changes associated with cancer, including copy number changes and chromosomal translocations, with the data to be deposited in public databases.
Using the StemArray(TM) scientists will not only detect the extremely large copy number changes that can be found by karyotype, but also identify very small aberrations that occur during culture that could decrease the reproducibility and reliability of experimental data.
Upon comparing the patterns of gains and losses in tissue samples from multiple metastatic sites in 29 of the men, the researchers identified unique copy number changes, as well as ones that were shared between multiple metastatic sites in each man and with other men in the study.
2 duplication based on FISH testing, indicating a de novo copy number change.