CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data
Packer, Jonathan S, Maxwell, Evan K, O'Dushlaine, Colm, Lopez, Alexander E, Dewey, Frederick E, Chernomorsky, Rostislav, Baras, Aris, Overton, John D, Habegger, Lukas, Reid, Jeffrey G
Published in Bioinformatics (01.01.2016)
Published in Bioinformatics (01.01.2016)
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Journal Article
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
Staples, Jeffrey, Maxwell, Evan K., Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiaodong, Lopez, Alexander E., Van Hout, Cristopher V., O’Dushlaine, Colm, Teslovich, Tanya M., McCarthy, Shane E., Balasubramanian, Suganthi, Kirchner, H. Lester, Leader, Joseph B., Murray, Michael F., Ledbetter, David H., Shuldiner, Alan R., Yancoupolos, George D., Dewey, Frederick E., Carey, David J., Overton, John D., Baras, Aris, Habegger, Lukas, Reid, Jeffrey G.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Journal Article
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
Abul-Husn, Noura S, Cheng, Xiping, Li, Alexander H, Xin, Yurong, Schurmann, Claudia, Stevis, Panayiotis, Liu, Yashu, Kozlitina, Julia, Stender, Stefan, Wood, G. Craig, Stepanchick, Ann N, Still, Matthew D, McCarthy, Shane, O’Dushlaine, Colm, Packer, Jonathan S, Balasubramanian, Suganthi, Gosalia, Nehal, Esopi, David, Kim, Sun Y, Mukherjee, Semanti, Lopez, Alexander E, Fuller, Erin D, Penn, John, Chu, Xin, Luo, Jonathan Z, Mirshahi, Uyenlinh L, Carey, David J, Still, Christopher D, Feldman, Michael D, Small, Aeron, Damrauer, Scott M, Rader, Daniel J, Zambrowicz, Brian, Olson, William, Murphy, Andrew J, Borecki, Ingrid B, Shuldiner, Alan R, Reid, Jeffrey G, Overton, John D, Yancopoulos, George D, Hobbs, Helen H, Cohen, Jonathan C, Gottesman, Omri, Teslovich, Tanya M, Baras, Aris, Mirshahi, Tooraj, Gromada, Jesper, Dewey, Frederick E
Published in The New England journal of medicine (22.03.2018)
Published in The New England journal of medicine (22.03.2018)
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Journal Article
KaryoScan: abnormal karyotype detection from whole-exome sequence
Maxwell, Evan K, Gonzaga-Jauregui, Claudia, Mccarthy, Shane E, O'dushlaine, Colm, Staples, Jeffrey, Lopez, Alexander E, Bai, Xiaodong, Penn, John, Ulloa, Rick, Gottesman, Omri, Baras, Aris, Dewey, Frederick E, Overton, John D, Puffenberger, Erik, Habegger, Lukas, Reid, Jeffrey G
Published in bioRxiv (17.10.2017)
Published in bioRxiv (17.10.2017)
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Paper
Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes
Staples, Jeffrey, Maxwell, Evan K, Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiadong, Lopez, Alexander E, Van Hout, Cristopher V, O'dushlaine, Colm, Teslovich, Tanya M, Mccarthy, Shane E, Balasubramanian, Suganthi, H Lester Kirchner, Leader, Joseph B, Murray, Michael F, Ledbetter, David H, Shuldiner, Alan R, Yancoupolos, George, Dewey, Frederick E, Carey, David J, Overton, John D, Baras, Aris, Habegger, Lukas, Reid, Jeffrey G
Published in bioRxiv (03.10.2017)
Published in bioRxiv (03.10.2017)
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Paper
Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
Maxwell, Evan K, Packer, Jonathan S, O'dushlaine, Colm, Mccarthy, Shane E, Hare-Harris, Abby, Staples, Jeffrey, Gonzaga-Jauregui, Claudia, Fetterolf, Samantha N, Faucett, W Andrew, Leader, Joseph B, Moreno-De-Luca, Andres, Giusy Della Gatta, Scollan, Margaret, Persaud, Trikaldarshi, Penn, John, Hawes, Alicia, Bai, Xiaodong, Wolf, Sarah, Lopez, Alexander E, Ulloa, Rick, Spangel, Christopher, Chernomorksy, Rostislav, Borecki, Ingrid B, Dewey, Frederick E, Economides, Aris N, Overton, John D, H Lester Kirchner, Murray, Michael F, Ritchie, Marylyn D, Carey, David J, Ledbetter, David H, Yancopoulos, George D, Shuldiner, Alan R, Baras, Aris, Gottesman, Omri, Habegger, Lukas, Martin, Christa Lese, Reid, Jeffrey G
Published in bioRxiv (22.03.2017)
Published in bioRxiv (22.03.2017)
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Paper