M
Marcia M. Nizzari
Researcher at Broad Institute
Publications - 6
Citations - 6124
Marcia M. Nizzari is an academic researcher from Broad Institute. The author has contributed to research in topics: Single-nucleotide polymorphism & SNP genotyping. The author has an hindex of 5, co-authored 6 publications receiving 5942 citations. Previous affiliations of Marcia M. Nizzari include National Institutes of Health & Massachusetts Institute of Technology.
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Journal ArticleDOI
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
Richa Saxena,Benjamin F. Voight,Valeriya Lyssenko,Noël P. Burtt,Paul I.W. de Bakker,Hong Chen,Jeffrey J. Roix,Sekar Kathiresan,Joel N. Hirschhorn,Mark J. Daly,Thomas E. Hughes,Leif Groop,David Altshuler,Peter Almgren,Jose C. Florez,Joanne M. Meyer,Kristin Ardlie,Kristina Bengtsson Boström,Bo Isomaa,Guillaume Lettre,Ulf Lindblad,Helen N. Lyon,Olle Melander,Christopher Newton-Cheh,Peter Nilsson,Marju Orho-Melander,Lennart Råstam,Elizabeth K. Speliotes,Marja-Riitta Taskinen,Tiinamaija Tuomi,Candace Guiducci,Anna Berglund,Joyce Carlson,Lauren Gianniny,Rachel Hackett,Liselotte Hall,Johan Holmkvist,Esa Laurila,Marketa Sjögren,Maria Sterner,Aarti Surti,Margareta Svensson,Malin Svensson,Ryan Tewhey,Brendan Blumenstiel,Melissa Parkin,Matthew DeFelice,Rachel Barry,Wendy Brodeur,Jody Camarata,Nancy Chia,Mary Fava,John G. Gibbons,Bob Handsaker,Claire M. Healy,Kieu Nguyen,Casey Gates,Carrie Sougnez,Diane Gage,Marcia M. Nizzari,Stacey Gabriel,Gung-Wei Chirn,Qicheng Ma,Hemang Parikh,Delwood Richardson,Darrell O. Ricke,Shaun Purcell +66 more
TL;DR: The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases.
Journal ArticleDOI
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
Andrew D. Johnson,Robert E. Handsaker,Sara L. Pulit,Marcia M. Nizzari,Christopher J. O'Donnell,Paul I.W. de Bakker +5 more
TL;DR: A flexible bioinformatics query tool for single-nucleotide polymorphisms (SNPs) to identify and to annotate nearby SNPs in linkage disequilibrium (proxies) based on HapMap that will facilitate interpretation and comparison of genome-wide association study results and the design of fine-mapping experiments.
Journal ArticleDOI
Integrated detection and population-genetic analysis of SNPs and copy number variation
Steven A. McCarroll,Finny G Kuruvilla,Joshua M. Korn,Simon Cawley,James Nemesh,Alec Wysoker,Michael H. Shapero,Paul I.W. de Bakker,Paul I.W. de Bakker,Paul I.W. de Bakker,Julian Maller,Andrew Kirby,Amanda F. Elliott,Melissa Parkin,Earl Hubbell,Teresa Webster,Rui Mei,James Veitch,Patrick J Collins,Robert E. Handsaker,Steve Lincoln,Marcia M. Nizzari,John E. Blume,Keith W. Jones,Rich Rava,Mark J. Daly,Stacey Gabriel,David Altshuler +27 more
TL;DR: A map of human CNV (at 2-kb breakpoint resolution) informed by integer genotypes for 1,320 copy number polymorphisms (CNPs) that segregate at an allele frequency >1% is developed, indicating that large (>100 kb) CNVs affect much less of the genome than initially reported.
Journal ArticleDOI
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
Joshua M. Korn,Finny G Kuruvilla,Steven A. McCarroll,Steven A. McCarroll,Alec Wysoker,James Nemesh,Simon Cawley,Earl Hubbell,Jim Veitch,Patrick J Collins,Katayoon Darvishi,Charles Lee,Marcia M. Nizzari,Stacey Gabriel,Shaun Purcell,Shaun Purcell,Mark J. Daly,Mark J. Daly,David Altshuler +18 more
TL;DR: Birdsuite is presented, a four-stage analytical framework instantiated in software for deriving integrated and mutually consistent copy number and SNP genotypes that more accurately depict the underlying sequence of each individual, reducing the rate of apparent mendelian inconsistencies.
Journal ArticleDOI
Candidate Gene Association Resource (CARe): Design, methods, and proof of concept
Kiran Musunuru,Guillaume Lettre,Taylor Young,Deborah N. Farlow,James P. Pirruccello,Kenechi Ejebe,Brendan J. Keating,Qiong Yang,Qiong Yang,Ming-Huei Chen,Ming-Huei Chen,Nina Lapchyk,Andrew Crenshaw,Liuda Ziaugra,Anthony Rachupka,Emelia J. Benjamin,Emelia J. Benjamin,L. Adrienne Cupples,L. Adrienne Cupples,Myriam Fornage,Ervin R. Fox,Susan R. Heckbert,Joel N. Hirschhorn,Christopher Newton-Cheh,Marcia M. Nizzari,Dina N. Paltoo,George J. Papanicolaou,Sanjay R. Patel,Bruce M. Psaty,Daniel J. Rader,Susan Redline,Stephen S. Rich,Jerome I. Rotter,Herman A. Taylor,Russell P. Tracy,Ramachandran S. Vasan,Ramachandran S. Vasan,James G. Wilson,Sekar Kathiresan,Richard R. Fabsitz,Eric Boerwinkle,Stacey Gabriel +41 more
TL;DR: CARe as discussed by the authors is a planned cross-cohort analysis of genetic variation in cardiovascular, pulmonary, hematologic, and sleep related traits, comprising >40 000 participants representing 4 ethnic groups in 9 community-based cohorts.