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

by Zekavat, Seyedeh M., Gabriel, Stacey, Lander, Eric Steven, Philippakis, Anthony A.
Published 2020

Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma

by Litonjua, Augusto A., Tantisira, Kelan G., Lake, Stephen, Lazarus, Ross, Richter, Brent G., Gabriel, Stacey B., Silverman, Eric S., Weiss, Scott T.
Published 2010

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

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

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

by Cibulskis, Kristian, Sivachenko, Andrey, Jaffe, David B., Sougnez, Carrie, Gabriel, Stacey B., Meyerson, Matthew L., Getz, Gad, Lawrence, Michael S., Carter, Scott L., Lander, Eric Steven
Published 2014

Discovery and saturation analysis of cancer genes across 21 tumour types

by Lawrence, Michael S., Stojanov, Petar, Mermel, Craig H., Robinson, James T., Garraway, Levi A., Golub, Todd R., Meyerson, Matthew L., Gabriel, Stacey B., Getz, Gad, Lander, Eric Steven
Published 2015

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

by Mitt, Mario, Kals, Mart, Pärn, Kalle, Ripatti, Samuli, Morris, Andrew P, Metspalu, Andres, Esko, Tõnu, Mägi, Reedik, Palta, Priit, Gabriel, Stacey, Lander, Eric Steven, Palotie, Aarno
Published 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

by McKenna, Aaron, Hanna, Matthew, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Altshuler, David, Gabriel, Stacey B., Daly, Mark J., DePristo, Mark A., Banks, Eric 1976-
Published 2014

Using viral load and epidemic dynamics to optimize pooled testing in resource-constrained settings

by Cleary, Brian Lowman, Hay, James A., Blumenstiel, Brendan, Harden, Maegan, Cipicchio, Michelle, Bezney, Jon, Simonton, Brooke, Hong, David, Senghore, Madikay, Sesay, Abdul K., Gabriel, Stacey, Regev, Aviv, Mina, Michael J.
Published 2021

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

by 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.
Published 2012

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease

by Blumenstiel, Brendan, DeFelice, Matthew, Birsoy, Ozge, Bleyer, Anthony J., Kmoch, Stanislav, Carter, Todd A., Gnirke, Andreas, Kidd, Kendrah, Rehm, Heidi L., Ronco, Lucienne, Gabriel, Stacey, Lennon, Niall J., Lander, Eric Steven
Published 2017

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

by Costello, Maura, Pugh, Trevor J., Fennell, Timothy, Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Fisher, Sheila, Getz, Gad, Lander, Eric Steven
Published 2014

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

by Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Piera Angelica, Ardissino, Diego, Gabriel, Stacey B., Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko, Lander, Eric Steven
Published 2015

A global reference for human genetic variation

by The 1000 Genomes Project Consortium, Gabriel, Stacey, Lander, Eric Steven, Banks, Eric, Bhatia, Gaurav, Kashin, Seva, McCarroll, Steven A, Nemesh, James, Poplin, Ryan E., Sabeti, Pardis, Shlyakhter, Ilya, Schaffner, Stephen F, Vitti, Joseph, Hartler, Christina M., Tariyal, Ridhi, Daly, Mark J., Gymrek, Melissa A.
Published 2017

RNF43 is frequently mutated in colorectal and endometrial cancers

by Giannakis, Marios, Hodis, Eran, Jasmine Mu, Xinmeng, Yamauchi, Mai, Rosenbluh, Joseph, Cibulskis, Kristian, Saksena, Gordon, Lawrence, Michael S, Qian, Zhi Rong, Nishihara, Reiko, Van Allen, Eliezer M, Hahn, William C, Gabriel, Stacey B, Getz, Gad, Ogino, Shuji, Fuchs, Charles S, Garraway, Levi A, Lander, Eric Steven
Published 2018

Initial genome sequencing and analysis of multiple myeloma

by Chapman, Michael A., Lawrence, Michael S., Keats, Jonathan J., Cibulskis, Kristian, Sougnez, Carrie, Schinzel, Anna C., Harview, Christina L., Brunet, Jean-Philippe, Ahmann, Gregory J., Adli, Mazhar, Anderson, Kenneth C., Ardlie, Kristin, Auclair, Daniel, Baker, Angela, Bergsagel, P. Leif, Bernstein, Bradley E., Drier, Yotam, Fonseca, Rafael, Gabriel, Stacey B., Lander, Eric Steven
Published 2014

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

by Guo, Michael H., Nandakumar, Satish K., Ulirsch, Jacob C., Buenrostro, Jason D., Natarajan, Pradeep, Salem, Rany M., Chiarle, Roberto, Mitt, Mario, Kals, Mart, Pärn, Kalle, Fischer, Krista, Milani, Lili, Mägi, Reedik, Palta, Priit, Metspalu, Andres, Esko, Tõnu, Zekavat, Seyedeh M., Gabriel, Stacey, Lander, Eric Steven, Kathiresan, Sekar, Sankaran, Vijay G., Hirschhorn, Joel N.
Published 2017

Genetic and Clonal Dissection of Murine Small Cell Lung Carcinoma Progression by Genome Sequencing

by Taylor-Weiner, Amaro, Stewart, Chip, Carter, Scott L, Cibulskis, Kristian, McKenna, Aaron, Dooley, Alison, Sougnez, Carrie, Park, Jennifer, Farago, Anna F, Dayton, Talya, Shefler, Erica, Gabriel, Stacey, Getz, Gad, McFadden, David Glenn, Papagiannakopoulos, Thales, Bhutkar, Arjun, Vernon, Amanda, Malstrom, Scott E., Heimann, Megan Kristianne, Parker, Jennifer E., Chen, Frances K., Jacks, Tyler E.
Published 2017

Activating mTOR Mutations in a Patient with an Extraordinary Response on a Phase I Trial of Everolimus and Pazopanib

by Wagle, N., Grabiner, Brian C., Van Allen, E. M., Hodis, Eran, Jacobus, S., Supko, J. G., Stewart, M., Choueiri, T. K., Gandhi, L., Cleary, J. M., Elfiky, A. A., Taplin, M. E., Stack, E. C., Signoretti, S., Loda, Massimo, Shapiro, G. I., Gabriel, Stacey B., Kantoff, Philip W., Garraway, Levi A., Rosenberg, J. E., Sabatini, David, Lander, Eric Steven
Published 2015