Characterizing the Major Structural Variant Alleles of the Human Genome von Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.

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Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans von Hsieh, PingHsun, Dang, Vy, Vollger, Mitchell R., Mao, Yafei, Huang, Tzu-Hsueh, Dishuck, Philip C., Baker, Carl, Cantsilieris, Stuart, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Underwood, Jason G., Eichler, Evan E.

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Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes von Hsieh, PingHsun, Vollger, Mitchell R, Dang, Vy, Porubsky, David, Baker, Carl, Cantsilieris, Stuart, Hoekzema, Kendra, Lewis, Alexandra P, Munson, Katherine M, Sorensen, Melanie, Kronenberg, Zev N, Murali, Shwetha, Nelson, Bradley J, Chiatante, Giorgia, Maggiolini, Flavia Angela Maria, Blanché, Hélène, Underwood, Jason G, Antonacci, Francesca, Deleuze, Jean-François, Eichler, Evan E

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Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family von Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, Eichler, Evan E.

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An evolutionary driver of interspersed segmental duplications in primates von Cantsilieris, Stuart, Sunkin, Susan M, Johnson, Matthew E, Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L, Underwood, Jason G, Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E, Sorensen, Melanie, Munson, Katherine M, Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T, Conlon, Ronald A, Eichler, Evan E

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Molecular methods for genotyping complex copy number polymorphisms von Cantsilieris, Stuart, Baird, Paul N., White, Stefan J.

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Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus von Maggiolini, Flavia A M, Cantsilieris, Stuart, D'Addabbo, Pietro, Manganelli, Michele, Coe, Bradley P, Dumont, Beth L, Sanders, Ashley D, Pang, Andy Wing Chun, Vollger, Mitchell R, Palumbo, Orazio, Palumbo, Pietro, Accadia, Maria, Carella, Massimo, Eichler, Evan E, Antonacci, Francesca

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Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication von Cantsilieris, Stuart, Western, Patrick S, Baird, Paul N, White, Stefan J

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The evolution and population diversity of human-specific segmental duplications von Dennis, Megan Y., Harshman, Lana, Nelson, Bradley J., Penn, Osnat, Cantsilieris, Stuart, Huddleston, John, Antonacci, Francesca, Penewit, Kelsi, Denman, Laura, Raja, Archana, Baker, Carl, Mark, Kenneth, Malig, Maika, Janke, Nicolette, Espinoza, Claudia, Stessman, Holly A. F., Nuttle, Xander, Hoekzema, Kendra, Lindsay-Graves, Tina A., Wilson, Richard K., Eichler, Evan E.

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The MassARRAY® System for Targeted SNP Genotyping von Ellis, Justine A., Ong, Benjamin

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Genotyping: Methods and Protocols von White, Stefan J, Cantsilieris, Stuart

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Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration von Cantsilieris, Stuart, White, Stefan J, Richardson, Andrea J, Guymer, Robyn H, Baird, Paul N

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Describing Sequence Variants Using HGVS Nomenclature von den Dunnen, Johan T.

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Targeted Locus Amplification and Next-Generation Sequencing von Hottentot, Quint P., van Min, M., Splinter, E., White, Stefan J.

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Methods for Genotyping-by-Sequencing von Rowan, Beth A., Seymour, Danelle K., Chae, Eunyoung, Lundberg, Derek S., Weigel, Detlef

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Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs) von Cantsilieris, Stuart, Stessman, Holly A., Shendure, Jay, Eichler, Evan E.

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Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1 von Lemmers, Richard J. L. F.

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Genotyping DNA Variants with High-Resolution Melting Analysis von Vossen, Rolf H. A. M.

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Quantitative DNA Analysis Using Droplet Digital PCR von Vossen, Rolf H. A. M, White, Stefan J.

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In Situ Single-Molecule RNA Genotyping Using Padlock Probes and Rolling Circle Amplification von Krzywkowski, Tomasz, Hauling, Thomas, Nilsson, Mats

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