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Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24800-7
By:
- 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.
Publication type:
Article
Accuracy and Computational Efficiency of a Graphical Modeling Approach to Linkage Disequilibrium Estimation.
Published in:
Statistical Applications in Genetics & Molecular Biology, 2011, v. 10, n. 1, p. 1, doi. 10.2202/1544-6115.1615
By:
- Abel, Haley J.;
- Thomas, Alun
Publication type:
Article
Occult Specimen Contamination in Routine Clinical Next-Generation Sequencing Testing.
Published in:
2015
By:
- Sehn, Jennifer K.;
- Spencer, David H.;
- Pfeifer, John D.;
- Bredemeyer, Andrew J.;
- Cottrell, Catherine E.;
- Abel, Haley J.;
- Duncavage, Eric J.
Publication type:
journal article
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.
Published in:
2016
By:
- Druley, Todd E.;
- Lihua Wang;
- Lin, Shiow J.;
- Lee, Joseph H.;
- Qunyuan Zhang;
- Warwick Daw, E.;
- Abel, Haley J.;
- Chasnoff, Sara E.;
- Ramos, Enrique I.;
- Levinson, Benjamin T.;
- Thyagarajan, Bharat;
- Newman, Anne B.;
- Christensen, Kaare;
- Mayeux, Richard;
- Province, Michael A.;
- Wang, Lihua;
- Zhang, Qunyuan;
- Daw, E Warwick
Publication type:
journal article
Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants.
Published in:
Annals of Human Genetics, 2012, v. 76, n. 6, p. 500, doi. 10.1111/j.1469-1809.2012.00728.x
By:
- Knight, Stacey;
- Abo, Ryan P.;
- Abel, Haley J.;
- Neklason, Deborah W.;
- Tuohy, Therese M.;
- Burt, Randall W.;
- Thomas, Alun;
- Camp, Nicola J.
Publication type:
Article
Pangenome graph construction from genome alignments with Minigraph-Cactus.
Published in:
Nature Biotechnology, 2024, v. 42, n. 4, p. 663, doi. 10.1038/s41587-023-01793-w
By:
- Hickey, Glenn;
- Monlong, Jean;
- Ebler, Jana;
- Novak, Adam M.;
- Eizenga, Jordan M.;
- Gao, Yan;
- Abel, Haley J.;
- Antonacci-Fulton, Lucinda L.;
- Asri, Mobin;
- Baid, Gunjan;
- Baker, Carl A.;
- Belyaeva, Anastasiya;
- Billis, Konstantinos;
- Bourque, Guillaume;
- Buonaiuto, Silvia;
- Carroll, Andrew;
- Chaisson, Mark J. P.;
- Chang, Pi-Chuan;
- Chang, Xian H.;
- Cheng, Haoyu
Publication type:
Article
Case-control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini-exome sequence data.
Published in:
BMC Proceedings, 2011, v. 5, n. Suppl 9, p. 1, doi. 10.1186/1753-6561-5-S9-S62
By:
- Abel, Haley J.;
- Thomas, Alun
Publication type:
Article
A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.
Published in:
Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 10, p. 1085, doi. 10.5858/arpa.2016-0194-CP
By:
- Duncavage, Eric J.;
- Abel, Haley J.;
- Merker, Jason D.;
- Bodner, John B.;
- Qin Zhao;
- Voelkerding, Karl V.;
- Pfeifer, John D.
Publication type:
Article
Admixture Mapping Identifies a Quantitative Trait Locus Associated with FEV<sub>1</sub>/FVC in the COPDGene Study.
Published in:
Genetic Epidemiology, 2014, v. 38, n. 7, p. 652, doi. 10.1002/gepi.21847
By:
- Parker, Margaret M.;
- Foreman, Marilyn G.;
- Abel, Haley J.;
- Mathias, Rasika A.;
- Hetmanski, Jacqueline B.;
- Crapo, James D.;
- Silverman, Edwin K.;
- Beaty, Terri H.
Publication type:
Article
Effect of linkage disequilibrium on the identification of functional variants.
Published in:
Genetic Epidemiology, 2011, v. 35, p. S115, doi. 10.1002/gepi.20660
By:
- Thomas, Alun;
- Abel, Haley J.;
- Di, Yanming;
- Faye, Laura L.;
- Jin, Jing;
- Liu, Jin;
- Wu, Zheyan;
- Paterson, Andrew D.
Publication type:
Article
svtools: population-scale analysis of structural variation.
Published in:
Bioinformatics, 2019, v. 35, n. 22, p. 4782, doi. 10.1093/bioinformatics/btz492
By:
- Larson, David E;
- Abel, Haley J;
- Chiang, Colby;
- Badve, Abhijit;
- Das, Indraniel;
- Eldred, James M;
- Layer, Ryan M;
- Hall, Ira M
Publication type:
Article
SVScore: an impact prediction tool for structural variation.
Published in:
Bioinformatics, 2017, v. 33, n. 7, p. 1083, doi. 10.1093/bioinformatics/btw789
By:
- Ganel, Liron;
- Abel, Haley J.;
- Consortium, FinMetSeq;
- Hall, Ira M.
Publication type:
Article
SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data.
Published in:
Bioinformatics, 2010, v. 26, n. 21, p. 2684, doi. 10.1093/bioinformatics/btq528
By:
- Abel, Haley J.;
- Duncavage, Eric J.;
- Becker, Nils;
- Armstrong, Jon R.;
- Magrini, Vincent J.;
- Pfeifer, John D.
Publication type:
Article

Found: 13