Technological considerations for genome-guided diagnosis and management of cancer

por Lennon, Niall J., Adalsteinsson, Viktor A., Gabriel, Stacey B.
Publicado 2016

Pacific biosciences sequencing technology for genotyping and variation discovery in human data

por Carneiro, Mauricio O, Russ, Carsten, Ross, Michael G, Gabriel, Stacey B, Nusbaum, Chad, DePristo, Mark A
Publicado 2012

Estimating epidemiologic dynamics from cross-sectional viral load distributions

por Hay, James A., Kennedy-Shaffer, Lee, Kanjilal, Sanjat, Lennon, Niall J., Gabriel, Stacey B., Lipsitch, Marc, Mina, Michael J.
Publicado 2021

Estimating epidemiologic dynamics from cross-sectional viral load distributions

por Hay, James A., Kennedy-Shaffer, Lee, Kanjilal, Sanjat, Lennon, Niall J., Gabriel, Stacey B., Lipsitch, Marc, Mina, Michael J.
Publicado 2021

Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability

por Drier, Yotam, Lawrence, Michael S., Carter, Scott L., Stewart, Chip, Gabriel, Stacey B., Lander, Eric S., Meyerson, Matthew, Beroukhim, Rameen, Getz, Gad
Publicado 2013

Discovery and saturation analysis of cancer genes across 21 tumor types

por Lawrence, Michael S., Stojanov, Petar, Mermel, Craig H., Garraway, Levi A., Golub, Todd R., Meyerson, Matthew, Gabriel, Stacey B., Lander, Eric S., Getz, Gad
Publicado 2014

Pooling for SARS-CoV2 Surveillance: Validation and Strategy for Implementation in K-12 Schools

por Simas, Alexandra M., Crott, Jimmy W., Sedore, Chris, Rohrbach, Augusta, Monaco, Anthony P., Gabriel, Stacey B., Lennon, Niall, Blumenstiel, Brendan, Genco, Caroline A.
Publicado 2021

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

por Mitt, Mario, Kals, Mart, Pärn, Kalle, Gabriel, Stacey B, Lander, Eric S, Palotie, Aarno, Ripatti, Samuli, Morris, Andrew P, Metspalu, Andres, Esko, Tõnu, Mägi, Reedik, Palta, Priit
Publicado 2017

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

por Chahrour, Maria H., Yu, Timothy W., Lim, Elaine T., Ataman, Bulent, Coulter, Michael E., Hill, R. Sean, Stevens, Christine R., Schubert, Christian R., Greenberg, Michael E., Gabriel, Stacey B., Walsh, Christopher A.
Publicado 2012

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

por Scott, Eric M., Halees, Anason, Itan, Yuval, Spencer, Emily G., He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B., Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G., Alkuraya, Fowzan S., Casanova, Jean-Laurent, Gleeson, Joseph G.
Publicado 2016

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

por Costello, Maura, Pugh, Trevor J., Fennell, Timothy J., Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Lander, Eric S., Fisher, Sheila, Getz, Gad
Publicado 2013

Pan-cancer patterns of somatic copy-number alteration

por Zack, Travis I., Schumacher, Steven E., Carter, Scott L., Cherniack, Andrew D., Saksena, Gordon, Tabak, Barbara, Lawrence, Michael S., Zhang, Cheng-Zhong, Wala, Jeremiah, Mermel, Craig H., Sougnez, Carrie, Gabriel, Stacey B., Hernandez, Bryan, Shen, Hui, Laird, Peter W., Getz, Gad, Meyerson, Matthew, Beroukhim, Rameen
Publicado 2013

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

por Alver, Maris, Palover, Marili, Saar, Aet, Läll, Kristi, Zekavat, Seyedeh Maryam, Tõnisson, Neeme, Leitsalu, Liis, Reigo, Anu, Nikopensius, Tiit, Ainla, Tiia, Kals, Mart, Mägi, Reedik, Gabriel, Stacey B., Eha, Jaan, Lander, Eric S., Irs, Alar, Philippakis, Anthony, Marandi, Toomas, Natarajan, Pradeep, Metspalu, Andres, Kathiresan, Sekar, Esko, Tõnu
Publicado 2018

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

por Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel A, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K
Publicado 2010

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

por Abdulhay, Nour J., Fiorini, Claudia, Verboon, Jeffrey M., Ludwig, Leif S., Ulirsch, Jacob C., Zieger, Barbara, Lareau, Caleb A., Mi, Xiaoli, Roy, Anindita, Obeng, Esther A., Erlacher, Miriam, Gupta, Namrata, Gabriel, Stacey B., Ebert, Benjamin L., Niemeyer, Charlotte M., Khoriaty, Rami N., Ancliff, Philip, Gazda, Hanna T., Wlodarski, Marcin W., Sankaran, Vijay G.
Publicado 2019

Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction

por Verboon, Jeffrey M., Mahmut, Dilnar, Kim, Ah Ram, Nakamura, Mitsutoshi, Abdulhay, Nour J., Nandakumar, Satish K., Gupta, Namrata, Akie, Thomas E., Geddis, Amy E., Manes, Becky, Kapp, Meghan E., Hofmann, Inga, Gabriel, Stacey B., Klein, Daryl E., Williams, David A., Frangoul, Haydar A., Parkhurst, Susan M., Crane, Genevieve M., Cantor, Alan B., Sankaran, Vijay G.
Publicado 2020

Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab

por Cho, Jeonghee, Bass, Adam J, Lawrence, Michael S, Cibulskis, Kristian, Cho, Ahye, Lee, Shi-Nai, Yamauchi, Mai, Wagle, Nikhil, Pochanard, Panisa, Kim, Nayoung, Park, Angela KJ, Won, Jonghwa, Hur, Hyung-Suk, Greulich, Heidi, Ogino, Shuji, Sougnez, Carrie, Voet, Douglas, Tabernero, Josep, Jimenez, Jose, Baselga, Jose, Gabriel, Stacey B, Lander, Eric S, Getz, Gad, Eck, Michael J, Park, Woong-Yang, Meyerson, Matthew
Publicado 2014

Paired Exome Analysis of Barrett’s Esophagus and Adenocarcinoma

por Stachler, Matthew D., Taylor-Weiner, Amaro, Peng, Shouyong, McKenna, Aaron, Agoston, Agoston T., Odze, Robert D., Davison, Jon M., Nason, Katie S., Loda, Massimo, Leshchiner, Ignaty, Stewart, Chip, Stojanov, Petar, Seepo, Sara, Lawrence, Michael S., Ferrer-Torres, Daysha, Lin, Jules, Chang, Andrew C., Gabriel, Stacey B., Lander, Eric S., Beer, David G., Getz, Gad, Carter, Scott L., Bass, Adam J.
Publicado 2015

Systematic genomic and translational efficiency studies of uveal melanoma

por Johnson, Chelsea Place, Kim, Ivana K., Esmaeli, Bita, Amin-Mansour, Ali, Treacy, Daniel J., Carter, Scott L., Hodis, Eran, Wagle, Nikhil, Seepo, Sara, Yu, Xiaoxing, Lane, Anne Marie, Gragoudas, Evangelos S., Vazquez, Francisca, Nickerson, Elizabeth, Cibulskis, Kristian, McKenna, Aaron, Gabriel, Stacey B., Getz, Gad, Van Allen, Eliezer M., ‘t Hoen, Peter A. C., Garraway, Levi A., Woodman, Scott E.
Publicado 2017

Outbreak of SARS-CoV-2 Infections, Including COVID-19 Vaccine Breakthrough Infections, Associated with Large Public Gatherings — Barnstable County, Massachusetts, July 2021

por Brown, Catherine M., Vostok, Johanna, Johnson, Hillary, Burns, Meagan, Gharpure, Radhika, Sami, Samira, Sabo, Rebecca T., Hall, Noemi, Foreman, Anne, Schubert, Petra L., Gallagher, Glen R., Fink, Timelia, Madoff, Lawrence C., Gabriel, Stacey B., MacInnis, Bronwyn, Park, Daniel J., Siddle, Katherine J., Harik, Vaira, Arvidson, Deirdre, Brock-Fisher, Taylor, Dunn, Molly, Kearns, Amanda, Laney, A. Scott
Publicado 2021