Nick Sampas

TL;DR: Many genes underlying the classification of this subset of melanomas are differentially regulated in invasive melanomas that form primitive tubular networks in vitro, a feature of some highly aggressive metastatic melanomas.

TL;DR: This work employs a clone-based method to interrogate intermediate structural variation in eight individuals of diverse geographic ancestry and provides the first high-resolution sequence map of human structural variation—a standard for genotyping platforms and a prelude to future individual genome sequencing projects.

TL;DR: This work identified 4.1 million “singly unique nucleotide” positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families, revealing extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species.

TL;DR: Probe-design methods and assay protocols that make oligonucleotide microarrays synthesized in situ by inkjet technology compatible with array-based comparative genomic hybridization applications employing samples of total genomic DNA provide a robust and precise platform for detecting chromosomal alterations throughout a genome with high sensitivity even when using full-complexity genomic samples.

TL;DR: The total genomic content of currently known common human CNVs is likely smaller than previously thought, and approximately 8% of the CNV regions observed in multiple individuals exhibited genomic architectural complexity in the form of smaller CNVs within larger ones and CNVs with interindividual variation in breakpoints.