Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Regier, Allison A., Farjoun, Yossi, Larson, David E., Krasheninina, Olga, Kang, Hyun Min, Howrigan, Daniel P., Chen, Bo-Juen, Kher, Manisha, Banks, Eric, Ames, Darren C., English, Adam C., Li, Heng, Xing, Jinchuan, Zhang, Yeting, Matise, Tara, Abecasis, Goncalo R., Salerno, Will, Zody, Michael C., Neale, Benjamin M., Hall, Ira M.
Published in Nature communications (02.10.2018)
Published in Nature communications (02.10.2018)
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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
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Published in Cell (01.09.2022)
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Breakpoint structure of the Anopheles gambiae 2Rb chromosomal inversion
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Published in Malaria journal (25.10.2010)
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Association of structural variation with cardiometabolic traits in Finns
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Published in Nature (London) (11.05.2023)
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Published in Science (American Association for the Advancement of Science) (02.04.2021)
Published in Science (American Association for the Advancement of Science) (02.04.2021)
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Mapping and characterization of structural variation in 17,795 human genomes
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Published in Nature (London) (02.07.2020)
Published in Nature (London) (02.07.2020)
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Pangenome graph construction from genome alignments with Minigraph-Cactus
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Published in Nature biotechnology (01.04.2024)
Published in Nature biotechnology (01.04.2024)
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Published in Nature (London) (11.05.2023)
Published in Nature (London) (11.05.2023)
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High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Byrska-Bishop, Marta, Evani, Uday S, Zhao, Xuefang, Basile, Anna O, Abel, Haley J, Regier, Allison A, Corvelo, André, Clarke, Wayne E, Musunuri, Rajeeva, Nagulapalli, Kshithija, Fairley, Susan, Runnels, Alexi, Winterkorn, Lara, Lowy-Gallego, Ernesto, The Human Genome Structural Variation Consortium, Flicek, Paul, Germer, Soren, Brand, Harrison, Hall, Ira M, Talkowski, Michael E, Narzisi, Giuseppe, Zody, Michael C
Published in bioRxiv (07.02.2021)
Published in bioRxiv (07.02.2021)
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Genome Modeling System: A Knowledge Management Platform for Genomics
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Published in PLoS computational biology (01.07.2015)
Published in PLoS computational biology (01.07.2015)
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Genome Modeling System: A Knowledge Management Platform for Genomics: e1004274
Griffith, Malachi, Griffith, Obi L, Smith, Scott M, Ramu, Avinash, Callaway, Matthew B, Brummett, Anthony M, Kiwala, Michael J, Coffman, Adam C, Regier, Allison A, Oberkfell, Ben J, Sanderson, Gabriel E, Mooney, Thomas P, Nutter, Nathaniel G, Belter, Edward A, Du, Feiyu, Long, Robert L, Abbott, Travis E, Ferguson, Ian T, Morton, David L, Burnett, Mark M, Weible, James V, Peck, Joshua B, Dukes, Adam, McMichael, Joshua F, Lolofie, Justin T, Derickson, Brian R, Hundal, Jasreet, Skidmore, Zachary L, Ainscough, Benjamin J, Dees, Nathan D, Schierding, William S, Kandoth, Cyriac, Kim, Kyung H, Lu, Charles, Harris, Christopher C, Maher, Nicole, Maher, Christopher A, Magrini, Vincent J, Abbott, Benjamin S, Chen, Ken, Clark, Eric, Das, Indraniel, Fan, Xian, Hawkins, Amy E, Hepler, Todd G, Wylie, Todd N, Leonard, Shawn M, Schroeder, William E, Shi, Xiaoqi, Carmichael, Lynn K, Weil, Matthew R, Wohlstadter, Richard W, Stiehr, Gary, McLellan, Michael D, Pohl, Craig S, Miller, Christopher A, Koboldt, Daniel C, Walker, Jason R, Eldred, James M, Larson, David E, Dooling, David J, Ding, Li, Mardis, Elaine R, Wilson, Richard K
Published in PLoS computational biology (01.07.2015)
Published in PLoS computational biology (01.07.2015)
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Breakpoint structure of the Anopheles gambiae 2R b chromosomal inversion
Lobo, Neil F, Sangaré, Djibril M, Regier, Allison A, Reidenbach, Kyanne R, Bretz, David A, Sharakhova, Maria V, Emrich, Scott J, Traore, Sekou F, Costantini, Carlo, Besansky, Nora J, Collins, Frank H
Published in Malaria journal (25.10.2010)
Published in Malaria journal (25.10.2010)
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Association of Structural Variation with Cardiometabolic Traits in Finns
Chen, Lei, Abel, Haley J, Das, Indraniel, Larson, David E, Ganel, Liron, Kanchi, Krishna L, Regier, Allison A, Young, Erica P, Kang, Chul Joo, Scott, Alexandra J, Chiang, Colby, Wang, Xinxin, Lu, Shuangjia, Christ, Ryan, Service, Susan K, Charleston Wk Chiang, Havulinna, Aki S, Kuusisto, Johanna, Boehnke, Michael, Laakso, Markku, Palotie, Aarno, Ripatti, Samuli, Freimer, Nelson B, Locke, Adam E, Stitziel, Nathan O, Hall, Ira M
Published in bioRxiv (13.12.2020)
Published in bioRxiv (13.12.2020)
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Paper
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Regier, Allison A, Farjoun, Yossi, Larson, David, Krasheninina, Olga, Kang, Hyun Min, Howrigan, Daniel P, Bo-Juen Chen, Kher, Manisha, Banks, Eric, Ames, Darren C, English, Adam C, Li, Heng, Xing, Jinchuan, Zhang, Yeting, Matise, Tara, The Nhlbi Trans-Omics For Precision Medicine (Topmed) Program, Abecasis, Goncalo R, Salerno, Will, Zody, Michael C, Neale, Benjamin M, Hall, Ira M
Published in bioRxiv (10.04.2018)
Published in bioRxiv (10.04.2018)
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