Accuracy and Computational Efficiency of a Graphical Modeling Approach to Linkage Disequilibrium Estimation*

av Abel, Haley J, Thomas, Alun
Publicerad 2011

Case-control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini-exome sequence data

av Abel, Haley J, Thomas, Alun
Publicerad 2011

Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches

av Abel, Haley J., Duncavage, Eric
I publikationen Cancer Genet (2013)

SVScore: an impact prediction tool for structural variation

av Ganel, Liron, Abel, Haley J, Hall, Ira M
I publikationen Bioinformatics (2017)

A Wide Spectrum of EGFR Mutations in Glioblastoma is Detected by a Single Clinical Oncology Targeted Next-Generation Sequencing Panel

av Cimino, Patrick J., Bredemeyer, Andy, Abel, Haley J., Duncavage, Eric J.
I publikationen Exp Mol Pathol (2015)

Comparison of Clinical Targeted Next-Generation Sequence Data from Formalin-Fixed and Fresh-Frozen Tissue Specimens

av Spencer, David H., Sehn, Jennifer K., Abel, Haley J., Watson, Mark A., Pfeifer, John D., Duncavage, Eric J.
I publikationen J Mol Diagn (2013)

Effect of Linkage Disequilibrium on the Identification of Functional Variants

av Thomas, Alun, Abel, Haley J, Di, Yanming, Faye, Laura L, Jin, Jing, Liu, Jin, Wu, Zheyan, Paterson, Andrew D
Publicerad 2011

Hybrid Capture and Next-Generation Sequencing Identify Viral Integration Sites from Formalin-Fixed, Paraffin-Embedded Tissue

av Duncavage, Eric J., Magrini, Vincent, Becker, Nils, Armstrong, Jon R., Demeter, Ryan T., Wylie, Todd, Abel, Haley J., Pfeifer, John D.
Publicerad 2011

svtools: population-scale analysis of structural variation

av Larson, David E, Abel, Haley J, Chiang, Colby, Badve, Abhijit, Das, Indraniel, Eldred, James M, Layer, Ryan M, Hall, Ira M
I publikationen Bioinformatics (2019)

Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants

av Knight, Stacey, Abo, Ryan P, Abel, Haley J, Neklason, Deborah W, Tuohy, Therese M, Burt, Randall W, Thomas, Alun, Camp, Nicola J
Publicerad 2012

Admixture Mapping Identifies a Quantitative Trait Locus Associated with FEV(1)/FVC in the COPDGene Study

av Parker, Margaret M., Foreman, Marilyn G., Abel, Haley J., Mathias, Rasika A., Hetmanksi, Jacqueline B., Crapo, James D., Silverman, Edwin K., Beaty, Terri H.
Publicerad 2014

Detection of Gene Rearrangements in Targeted Clinical Next-Generation Sequencing

av Abel, Haley J., Al-Kateb, Hussam, Cottrell, Catherine E., Bredemeyer, Andrew J., Pritchard, Colin C., Grossmann, Allie H., Wallander, Michelle L., Pfeifer, John D., Lockwood, Christina M., Duncavage, Eric J.
Publicerad 2014

Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

av Druley, Todd E., Wang, Lihua, Lin, Shiow J., Lee, Joseph H., Zhang, Qunyuan, Daw, E. Warwick, Abel, Haley J., Chasnoff, Sara E., Ramos, Enrique I., Levinson, Benjamin T., Thyagarajan, Bharat, Newman, Anne B., Christensen, Kaare, Mayeux, Richard, Province, Michael A.
I publikationen BMC Geriatr (2016)

Whole exome sequencing reveals the order of genetic changes during malignant transformation and metastasis in a single patient with NF1-plexiform neurofibroma

av Hirbe, Angela C., Dahiya, Sonika, Miller, Christopher A., Li, Tiandao, Fulton, Robert S., Zhang, Xiaochun, McDonald, Sandra, DeSchryver, Katherine, Duncavage, Eric J., Walrath, Jessica, Reilly, Karlyne M., Abel, Haley J., Pekmezci, Melike, Perry, Arie, Ley, Timothy J., Gutmann, David H.
I publikationen Clin Cancer Res (2015)

Mapping and characterization of structural variation in 17,795 human genomes

av Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.
I publikationen Nature (2020)

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

av Smith, Amanda M., LaValle, Taylor A., Shinawi, Marwan, Ramakrishnan, Sai M., Abel, Haley J., Hill, Cheryl A., Kirkland, Nicole M., Rettig, Michael P., Helton, Nichole M., Heath, Sharon E., Ferraro, Francesca, Chen, David Y., Adak, Sangeeta, Semenkovich, Clay F., Christian, Diana L., Martin, Jenna R., Gabel, Harrison W., Miller, Christopher A., Ley, Timothy J.
I publikationen Nat Commun (2021)

Association of structural variation with cardiometabolic traits in Finns

av 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., Chiang, Charleston W.K., 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.
I publikationen Am J Hum Genet (2021)

Validation of a Next-Generation Sequencing Assay for Clinical Molecular Oncology

av Cottrell, Catherine E., Al-Kateb, Hussam, Bredemeyer, Andrew J., Duncavage, Eric J., Spencer, David H., Abel, Haley J., Lockwood, Christina M., Hagemann, Ian S., O’Guin, Stephanie M., Burcea, Lauren C., Sawyer, Christopher S., Oschwald, Dayna M., Stratman, Jennifer L., Sher, Dorie A., Johnson, Mark R., Brown, Justin T., Cliften, Paul F., George, Bijoy, McIntosh, Leslie D., Shrivastava, Savita, Nguyen, TuDung T., Payton, Jacqueline E., Watson, Mark A., Crosby, Seth D., Head, Richard D., Mitra, Robi D., Nagarajan, Rakesh, Kulkarni, Shashikant, Seibert, Karen, Virgin, Herbert W., Milbrandt, Jeffrey, Pfeifer, John D.
I publikationen J Mol Diagn (2014)

Exome sequencing of Finnish isolates enhances rare-variant association power

av Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B
I publikationen Nature (2019)

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

av Ebert, Peter, Audano, Peter A., Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Mari, Rebecca Serra, Yilmaz, Feyza, Zhao, Xuefang, Hsieh, PingHsun, Lee, Joyce, Kumar, Sushant, Lin, Jiadong, Rausch, Tobias, Chen, Yu, Ren, Jingwen, Santamarina, Martin, Höps, Wolfram, Ashraf, Hufsah, Chuang, Nelson T., Yang, Xiaofei, Munson, Katherine M., Lewis, Alexandra P., Fairley, Susan, Tallon, Luke J., Clarke, Wayne E., Basile, Anna O., Byrska-Bishop, Marta, Corvelo, André, Evani, Uday S., Lu, Tsung-Yu, Chaisson, Mark J.P., Chen, Junjie, Li, Chong, Brand, Harrison, Wenger, Aaron M., Ghareghani, Maryam, Harvey, William T., Raeder, Benjamin, Hasenfeld, Patrick, Regier, Allison A., Abel, Haley J., Hall, Ira M., Flicek, Paul, Stegle, Oliver, Gerstein, Mark B., Tubio, Jose M.C., Mu, Zepeng, Li, Yang I., Shi, Xinghua, Hastie, Alex R., Ye, Kai, Chong, Zechen, Sanders, Ashley D., Zody, Michael C., Talkowski, Michael E., Mills, Ryan E., Devine, Scott E., Lee, Charles, Korbel, Jan O., Marschall, Tobias, Eichler, Evan E.
I publikationen Science (2021)