Search Results - "Nizzari, Marcia"

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap by Johnson, Andrew D., Handsaker, Robert E., Pulit, Sara L., Nizzari, Marcia M., O'Donnell, Christopher J., de Bakker, Paul I. W.

“…The interpretation of genome-wide association results is confounded by linkage disequilibrium between nearby alleles. We have developed a flexible…”
Get full text

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs by Korn, Joshua M, Altshuler, David, Kuruvilla, Finny G, McCarroll, Steven A, Wysoker, Alec, Nemesh, James, Cawley, Simon, Hubbell, Earl, Veitch, Jim, Collins, Patrick J, Darvishi, Katayoon, Lee, Charles, Nizzari, Marcia M, Gabriel, Stacey B, Purcell, Shaun, Daly, Mark J

“…David Altshuler and colleagues describe analysis for integrating genotype calling of SNPs, common copy number polymorphisms and rare CNVs, implemented in a…”
Get full text

Integrated detection and population-genetic analysis of SNPs and copy number variation by McCarroll, Steven A, Altshuler, David, Kuruvilla, Finny G, Korn, Joshua M, Cawley, Simon, Nemesh, James, Wysoker, Alec, Shapero, Michael H, de Bakker, Paul I W, Maller, Julian B, Kirby, Andrew, Elliott, Amanda L, Parkin, Melissa, Hubbell, Earl, Webster, Teresa, Mei, Rui, Veitch, James, Collins, Patrick J, Handsaker, Robert, Lincoln, Steve, Nizzari, Marcia, Blume, John, Jones, Keith W, Rava, Rich, Daly, Mark J, Gabriel, Stacey B

“…David Altshuler and colleagues report the design of a hybrid SNP-CNV genotyping array (Affymetrix SNP 6.0 Array) allowing for integrated SNP and CNV detection…”
Get full text

Next-generation carrier screening by Umbarger, Mark A., Kennedy, Caleb J., Saunders, Patrick, Breton, Benjamin, Chennagiri, Niru, Emhoff, John, Greger, Valerie, Hallam, Stephanie, Maganzini, David, Micale, Cynthia, Nizzari, Marcia M., Towne, Charles F., Church, George M., Porreca, Gregory J.

“…Purpose: Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent…”
Get full text

Orthogonal NGS for High Throughput Clinical Diagnostics by Chennagiri, Niru, White, Eric J., Frieden, Alexander, Lopez, Edgardo, Lieber, Daniel S., Nikiforov, Anastasia, Ross, Tristen, Batorsky, Rebecca, Hansen, Sherry, Lip, Va, Luquette, Lovelace J., Mauceli, Evan, Margulies, David, Milos, Patrice M., Napolitano, Nichole, Nizzari, Marcia M., Yu, Timothy, Thompson, John F.

“…Next generation sequencing is a transformative technology for discovering and diagnosing genetic disorders. However, high-throughput sequencing remains…”
Get full text

Candidate Gene Association Resource (CARe): Design, Methods, and Proof of Concept by Musunuru, Kiran, Lettre, Guillaume, Young, Taylor, Farlow, Deborah N, Pirruccello, James P, Ejebe, Kenechi G, Keating, Brendan J, Yang, Qiong, Chen, Ming-Huei, Lapchyk, Nina, Crenshaw, Andrew, Ziaugra, Liuda, Rachupka, Anthony, Benjamin, Emelia J, Cupples, L. Adrienne, Fornage, Myriam, Fox, Ervin R, Heckbert, Susan R, Hirschhorn, Joel N, Newton-Cheh, Christopher, Nizzari, Marcia M, Paltoo, Dina N, Papanicolaou, George J, Patel, Sanjay R, Psaty, Bruce M, Rader, Daniel J, Redline, Susan, Rich, Stephen S, Rotter, Jerome I, Taylor, Herman A, Tracy, Russell P, Vasan, Ramachandran S, Wilson, James G, Kathiresan, Sekar, Fabsitz, Richard R, Boerwinkle, Eric, Gabriel, Stacey B

“…BACKGROUND—The National Heart, Lung, and Blood Institute’s Candidate Gene Association Resource (CARe), a planned cross-cohort analysis of genetic variation in…”
Get full text

Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations across Several Diseases by Greger, Valerie, Breton, Benjamin, Faulkner, Nicole, Kennedy, Caleb, Neitzel, Dana, Nizzari, Marcia, Porreca, Greg, Saunders, Patrick, Umbarger, Mark, Rochelle, Robert, Hallam, Stephanie

Get full text

Carrier Screening for Cystic Fibrosis among IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations by Hallam, Stephanie, Breton, Benjamin, Faulkner, Nicole, Kennedy, Caleb, Neitzel, Dana, Nizzari, Marcia, Porreca, Greg, Saunders, Patrick, Umbarger, Mark, Rochelle, Robert, Greger, Valerie

Get full text