Best practices for variant calling in clinical sequencing

by Daniel C. Koboldt
Published 2020-10-01

Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data

by Andrea Ciolfi, Viviana Caputo, Daniel C. Koboldt, Paolo Uva
Published 2022-06-01

Comparison of C. elegans and C. briggsae genome sequences reveals extensive conservation of chromosome organization and synteny.

by LaDeana W Hillier, Raymond D Miller, Scott E Baird, Asif Chinwalla, Lucinda A Fulton, Daniel C Koboldt, Robert H Waterston
Published 2007-07-01

Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue

by Sydney E. Townsend, Jesse J. Westfall, Jason B. Navarro, Daniel C. Koboldt, Elaine R. Mardis, Katherine E. Miller, Tracy A. Bedrosian
Published 2023-01-01

Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review

by Rahul N. Prasad, Ulysses G. Gardner, Alexander Yaney, Daniel M. Prevedello, Daniel C. Koboldt, Diana L. Thomas, Elaine R. Mardis, Joshua D. Palmer
Published 2021-08-01

Caenorhabditis briggsae recombinant inbred line genotypes reveal inter-strain incompatibility and the evolution of recombination.

by Joseph A Ross, Daniel C Koboldt, Julia E Staisch, Helen M Chamberlin, Bhagwati P Gupta, Raymond D Miller, Scott E Baird, Eric S Haag
Published 2011-07-01

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

by Andrew D. Franklin, Bimal P. Chaudhari, Bimal P. Chaudhari, Bimal P. Chaudhari, Bimal P. Chaudhari, Daniel C. Koboldt, Kerri Z. Machut, Kerri Z. Machut
Published 2021-06-01

Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers

by Adam D. Pfefferle, Yash N. Agrawal, Daniel C. Koboldt, Krishna L. Kanchi, Jason I. Herschkowitz, Elaine R. Mardis, Jeffrey M. Rosen, Charles M. Perou
Published 2016-07-01

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

by Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Jesse M. Hunter, Jesse M. Hunter, Marco L. Leung, Marco L. Leung, Marco L. Leung, Elaine R. Mardis, Elaine R. Mardis, Peter White, Peter White, Murugu Manickam, Murugu Manickam, Richard K. Wilson, Richard K. Wilson, Daniel C. Koboldt, Daniel C. Koboldt
Published 2024-01-01

Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis

by Jesse J. Westfall, Wesley N. Schwind, Sahibjot Sran, Jason B. Navarro, Jeffrey Leonard, Jonathan A. Pindrik, Christopher R. Pierson, Daniel R. Boué, Daniel C. Koboldt, Adam P. Ostendorf, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Tracy A. Bedrosian
Published 2022-11-01

Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement

by Katherine E. Miller, Katherine E. Miller, Gregory Wheeler, Stephanie LaHaye, Kathleen M. Schieffer, Kathleen M. Schieffer, Kathleen M. Schieffer, Sydney Cearlock, Lakshmi Prakruthi Rao Venkata, Alejandro Otero Bravo, Olivia E. Grischow, Benjamin J. Kelly, Peter White, Peter White, Christopher R. Pierson, Christopher R. Pierson, Christopher R. Pierson, Daniel R. Boué, Daniel R. Boué, Selene C. Koo, Darren Klawinski, Darren Klawinski, Mark A. Ranalli, Mark A. Ranalli, Ammar Shaikhouni, Ammar Shaikhouni, Ralph Salloum, Ralph Salloum, Ralph Salloum, Margaret Shatara, Jeffrey R. Leonard, Jeffrey R. Leonard, Jeffrey R. Leonard, Richard K. Wilson, Richard K. Wilson, Catherine E. Cottrell, Catherine E. Cottrell, Catherine E. Cottrell, Elaine R. Mardis, Elaine R. Mardis, Elaine R. Mardis, Daniel C. Koboldt, Daniel C. Koboldt
Published 2022-07-01

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

by Susan K Service, Tanya M Teslovich, Christian Fuchsberger, Vasily Ramensky, Pranav Yajnik, Daniel C Koboldt, David E Larson, Qunyuan Zhang, Ling Lin, Ryan Welch, Li Ding, Michael D McLellan, Michele O'Laughlin, Catrina Fronick, Lucinda L Fulton, Vincent Magrini, Amy Swift, Paul Elliott, Marjo-Riitta Jarvelin, Marika Kaakinen, Mark I McCarthy, Leena Peltonen, Anneli Pouta, Lori L Bonnycastle, Francis S Collins, Narisu Narisu, Heather M Stringham, Jaakko Tuomilehto, Samuli Ripatti, Robert S Fulton, Chiara Sabatti, Richard K Wilson, Michael Boehnke, Nelson B Freimer
Published 2014-01-01

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

by Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué
Published 2021-04-01

Discovery of clinically relevant fusions in pediatric cancer

by Stephanie LaHaye, James R. Fitch, Kyle J. Voytovich, Adam C. Herman, Benjamin J. Kelly, Grant E. Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D. McGrath, Anthony R. Miller, Amy Wetzel, Katherine E. Miller, Tracy A. Bedrosian, Kristen Leraas, Elizabeth A. Varga, Kristy Lee, Ajay Gupta, Bhuvana Setty, Daniel R. Boué, Jeffrey R. Leonard, Jonathan L. Finlay, Mohamed S. Abdelbaki, Diana S. Osorio, Selene C. Koo, Daniel C. Koboldt, Alex H. Wagner, Ann-Kathrin Eisfeld, Krzysztof Mrózek, Vincent Magrini, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Peter White
Published 2021-12-01

Genome Modeling System: A Knowledge Management Platform for Genomics.

by Malachi Griffith, Obi L Griffith, Scott M Smith, Avinash Ramu, Matthew B Callaway, Anthony M Brummett, Michael J Kiwala, Adam C Coffman, Allison A Regier, Ben J Oberkfell, Gabriel E Sanderson, Thomas P Mooney, Nathaniel G Nutter, Edward A Belter, Feiyu Du, Robert L Long, Travis E Abbott, Ian T Ferguson, David L Morton, Mark M Burnett, James V Weible, Joshua B Peck, Adam Dukes, Joshua F McMichael, Justin T Lolofie, Brian R Derickson, Jasreet Hundal, Zachary L Skidmore, Benjamin J Ainscough, Nathan D Dees, William S Schierding, Cyriac Kandoth, Kyung H Kim, Charles Lu, Christopher C Harris, Nicole Maher, Christopher A Maher, Vincent J Magrini, Benjamin S Abbott, Ken Chen, Eric Clark, Indraniel Das, Xian Fan, Amy E Hawkins, Todd G Hepler, Todd N Wylie, Shawn M Leonard, William E Schroeder, Xiaoqi Shi, Lynn K Carmichael, Matthew R Weil, Richard W Wohlstadter, Gary Stiehr, Michael D McLellan, Craig S Pohl, Christopher A Miller, Daniel C Koboldt, Jason R Walker, James M Eldred, David E Larson, David J Dooling, Li Ding, Elaine R Mardis, Richard K Wilson
Published 2015-07-01