作者：Xiaoyi Gao (1)
Jianpeng Xu (1)
Joshua Starmer (2) (3) (4)

1. Department of Ophthalmology and Visual Sciences ; University of Illinois at Chicago ; Chicago ; IL ; 60612 ; USA
2. Department of Genetics ; University of North Carolina-Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA
3. Carolina Center for Genome Sciences ; The University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA
4. Lineberger Comprehensive Cancer Center ; The University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA

关键词：Next generation sequencing ; Whole exome sequencing ; Variant calling ; Pipeline ; Automation

刊名：BMC Research Notes

出版年：2015

作者：Joshua D Welch (1) (2)
Jeanette Baran-Gale (1) (3)
Charles M Perou (1) (3) (4)
Praveen Sethupathy (1) (3) (4)
Jan F Prins (1) (2)

1. Curriculum in Bioinformatics and Computational Biology ; The University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA
2. Department of Computer Science ; The University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA
3. Department of Genetics ; The University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA
4. Lineberger Comprehensive Cancer Center ; The University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA

刊名：BMC Genomics

出版年：2015

作者：Colin B Begg (1)
Venkatraman E Seshan (1)
Emily C Zabor (1)
Helena Furberg (1)
Arshi Arora (1)
Ronglai Shen (1)
Jodi K Maranchie (2)
Matthew E Nielsen (3)
W Kimryn Rathmell (4)
Sabina Signoretti (5)
Pheroze Tamboli (6)
Jose A Karam (7)
Toni K Choueiri (8)
A Ari Hakimi (9)
James J Hsieh (10)

1. Department of Epidemiology and Biostatistics ; Memorial Sloan Kettering Cancer Center ; New York ; NY ; USA
2. Department of Urology ; University of Pittsburgh Medical Center ; Pittsburgh ; PA ; USA
3. Departments of Urology ; Epidemiology and Health Policy and Management and Surgery ; University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; USA
4. Departments of Medicine and Genetics ; Lineberger Comprehensive Cancer Center ; University of North Carolina ; Chapel Hill ; NC ; USA
5. Department of Pathology ; Brigham and Womens鈥?Hospital ; Harvard Medical School ; Boston ; MA ; USA
6. Department of Pathology ; The University of Texas MD Anderson Cancer Center ; Houston ; TX ; USA
7. The University of Texas MD Anderson Cancer Center ; Houston ; TX ; USA
8. Department of Medical Oncology ; Dana-Farber Cancer Institute ; Brigham and Women鈥檚 Hospital ; Harvard Medical School ; Boston ; MA ; USA
9. Department of Surgery ; Urology Service ; Memorial Sloan Kettering Cancer Center ; New York ; NY ; USA
10. Human Oncology and Pathogenesis Program ; Memorial Sloan Kettering Cancer Center ; New York ; NY ; USA

关键词：Etiologic heterogeneity ; Kidney cancer ; Tumor sub ; types

刊名：BMC Medical Research Methodology

出版年：2014

作者：Ephraim L Tsalik (1) (2)
Raymond J Langley (3) (4)
Darrell L Dinwiddie (3) (5)
Neil A Miller (3) (6)
Byunggil Yoo (6)
Jennifer C van Velkinburgh (3)
Laurie D Smith (6)
Isabella Thiffault (6)
Anja K Jaehne (7)
Ashlee M Valente (2)
Ricardo Henao (8)
Xin Yuan (8)
Seth W Glickman (9)
Brandon J Rice (3)
Micah T McClain (10) (2)
Lawrence Carin (8)
G Ralph Corey (10) (2)
Geoffrey S Ginsburg (2)
Charles B Cairns (9)
Ronny M Otero (11) (7)
Vance G Fowler Jr (2)
Emanuel P Rivers (7)
Christopher W Woods (10) (2)
Stephen F Kingsmore (3) (5)

1. Emergency Medicine Service ; Durham Veterans Affairs Medical Center ; Durham ; North Carolina ; 27705 ; USA
2. Department of Medicine ; Duke University Medical Center ; Durham ; NC ; 27710 ; USA
3. National Center for Genome Resources ; Santa Fe ; NM ; 87505 ; USA
4. Department of Immunology ; Lovelace Respiratory Research Institute ; Albuquerque ; NM ; 87108 ; USA
5. Department of Pediatrics ; Center for Translational Sciences ; University of New Mexico ; Albuquerque ; NM ; 87131 ; USA
6. Center for Pediatric Genomic Medicine ; Children鈥檚 Mercy Hospitals and Clinic ; Kansas City ; MO ; 64108 ; USA
7. Department of Emergency Medicine ; Henry Ford Hospital ; Detroit ; Michigan ; 48202 ; USA
8. Department of Electrical & Computer Engineering ; Duke University ; Durham ; NC ; 27710 ; USA
9. Department of Emergency Medicine ; University of North Carolina School of Medicine ; Chapel Hill ; NC ; 27599 ; USA
10. Medicine Service ; Durham Veterans Affairs Medical Center ; Durham ; NC ; 27705 ; USA
11. Department of Emergency Medicine ; University of Michigan ; Ann Arbor ; MI ; 48109 ; USA

刊名：Genome Medicine

出版年：2014

作者：Maitreyee Bose (1)
Chong Wu (1)
James S Pankow (2)
Ellen W Demerath (2)
Jan Bressler (3)
Myriam Fornage (3)
Megan L Grove (3)
Thomas H Mosley (4)
Chindo Hicks (4)
Kari North (5)
Wen Hong Kao (6)
Yu Zhang (7)
Eric Boerwinkle (3)
Weihua Guan (1)

1. Division of Biostatistics ; School of Public Health ; University of Minnesota ; Minneapolis ; MN ; 55455 ; USA
2. Division of Epidemiology & Community Health ; School of Public Health ; University of Minnesota ; Minneapolis ; MN ; 55455 ; USA
3. Human Genetics Center ; School of Public Health ; University of Texas Health Science Center at Houston ; Houston ; TX ; 77030 ; USA
4. Department of Neurology and Department of Medicine ; University of Mississippi ; Jackson ; MS ; 39216 ; USA
5. Department of Epidemiology ; School of Public Health ; University of North Carolina ; Chapel Hill ; NC ; 27516 ; USA
6. Department of Epidemiology ; Johns Hopkins Bloomberg School of Public Health ; Baltimore ; MD ; 21205 ; USA
7. Department of Computer Science ; Saint John鈥檚 University ; Collegeville ; MN ; 56321 ; USA

关键词：DNA methylation ; Infinium 450聽K chip ; Technical error ; Intraclass correlation ; Normal mixture models

刊名：BMC Bioinformatics

出版年：2014

作者：Ashlee M Benjamin (7)
Marshall Nichols (7)
Thomas W Burke (7)
Geoffrey S Ginsburg (7)
Joseph E Lucas (8)

7. Center for Applied Genomics ; Department of Medicine ; Duke University ; Durham ; North Carolina ; USA
8. Department of Electrical and Computer Engineering ; Duke University ; Durham ; North Carolina ; USA

关键词：RNA ; Sequencing ; Genomics ; Mapping

刊名：BMC Genomics

出版年：2014

作者：John P Didion (6) (7) (8)
Ryan J Buus (6) (7) (8)
Zohreh Naghashfar (9)
David W Threadgill (10) (11)
Herbert C Morse III (9)
Fernando Pardo-Manuel de Villena (6) (7) (8)

6. Department of Genetics ; University of North Carolina at Chapel Hill ; CB 7295 ; Chapel Hill ; NC ; 27599-7264 ; USA
7. Lineberger Comprehensive Cancer Center ; University of North Carolina at Chapel Hill ; CB 7295 ; Chapel Hill ; NC ; 27599-7264 ; USA
8. Carolina Center for Genome Science ; University of North Carolina at Chapel Hill ; CB 7295 ; Chapel Hill ; NC ; 27599-7264 ; USA
9. Laboratory of Immunogenetics ; National Institute of Allergy and Infectious Diseases ; National Institutes of Health ; Twinbrook I ; Room 1421 ; 5640 Fishers Lane ; Rockville ; MD ; 20852 ; USA
10. Department of Veterinary Pathobiology ; College of Veterinary Medicine and Biomedical Sciences ; Texas A&M University ; College Station ; TX ; 77843 ; USA
11. Department of Molecular and Cellular Medicine ; College of Medicine ; Texas A&M University ; College Station ; TX ; 77843 ; USA

刊名：BMC Genomics

出版年：2014

作者：Cecelia Laurie (1) (2)
Shengchu Wang (3)
Luciana Aparecida Carlini-Garcia (4) (5)
Zhao-Bang Zeng (3) (6)

1. Department of Mathematics ; University of Alabama ; Tuscaloosa AL ; USA
2. Department of Biostatistics ; University of Washington ; Seattle WA ; USA
3. Bioinformatics Research Center ; Department of Statistics ; North Carolina State University ; Raleigh NC ; 27695-7566 ; USA
4. Instituto Agron么mico de Campinas ; Centro de Gr茫os e Fibras ; Campinas SP ; Brazil
5. APTA Regional ; P贸lo Centro Sul ; Piracicaba SP ; Brazil
6. Department of Biological Sciences ; North Carolina State University ; Raleigh NC ; USA

关键词：Quantitative trait loci ; Epistasis ; Model selection ; Sequential search

刊名：BMC Genetics

出版年：2014

作者：Ronglin Che (1)
John R Jack (1)
Alison A Motsinger-Reif (1)
Chad C Brown (1)

1. Bioinformatics Research Center ; Department of Statistics ; North Carolina State University ; Raleigh ; NC ; 27695 ; USA

刊名：BioData Mining

出版年：2014

作者：Shanshan Zhou (3)
Trudy FC Mackay (3)
Robert RH Anholt (3)

3. Department of Biological Sciences ; W. M. Keck Center for Behavioral Biology and Program in Genetics ; Box 7614 ; North Carolina State University ; Raleigh ; NC ; 27695-7617 ; USA

关键词：microRNA ; Histone modification ; ChipSeq ; Environmental plasticity ; Systems genetics

刊名：BMC Genomics

出版年：2014