Publications

Publications

Assuring the quality of next-generation sequencing in clinical laboratory practice

Amy S. Gargis, Lisa Kalman, Meredith W Berry, David P. Bick, David P. Dimmock, Tina Hambuch, Fei Lu, Elaine Lyon, Karl V. Voelkerding, Barbara A. Zehnbauer, Richa Agarwala, Sarah F. Bennett, Bin Chen, Ephrem L. H. Chin, John G. Compton, Soma Das, Daniel H. Farkas, Matthew J. Ferber, Birgit H. Funke, Manohar R. Furtado, Lilia M. Ganova-Raeva, Ute Geigenmüller, Sandra J. Gunselman, Madhuri R. Hegde, Philip L. F. Johnson, Andrew Kasarskis, Shashikant Kulkarni, Thomas Lenk, C. S. Jonathan Liu, Megan Manion, Teri A. Manolio, Elaine R. Mardis, Jason D. Merker, Mangalathu S. Rajeevan, Martin G. Reese, Heidi L. Rehm, Birgitte B. Simen, Joanne M. Yeakley, Justin M. Zook, Ira M. Lubin

Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403.
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Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation

Jeffrey M. Kidd, Simon Grave, Jake Byrnes, Andres Moreno-Estrada, Shaila Musharoff, Katarzyna Bryc, Jeremiah D. Degenhardt, Abra Brisbin, Vrunda Sheth, Rong Chen, Stephen F. McLaughlin, Heather E. Peckham, Larsson Omberg, Christina A. Bormann Chung, Sarah Stanley, Kevin Pearlstein, Elizabeth Levandowsky, Suehelay Acevedo-Acevedo, Adam Auton, Alon Keinan, Victor Acuña-Alonzo, Rodrigo Barquera-Lozano, Samuel Canizales-Quinteros, Celeste Eng, Esteban G. Burchard, Archie Russell, Andy Reynolds, Andrew G. Clark, Martin G. Reese, Stephen E. Lincoln, Atul J. Butte, Francisco M. De La Vega, Carlos D. Bustamante

Am J Hum Genet. 2012 Oct 5;91(4):660-71. doi: 10.1016/j.ajhg.2012.08.025.
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Using VAAST to identify an X-linked disorder resulting in lethality in male infants

Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey J. Swensen, W. Evan Johnson, Barry Moore, Chad D. Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens, Tao Jiang, Christa Schank, Heidi Deborah Fain, Reid Robison, Brian Dalley, Steven Chin, Sarah T. South, Theodore J. Pysher, Lynn B. Jorde, Hakon Hakonarson, Johan R. Lillehaug, Leslie G. Biesecker, Mark Yandell, Thomas Arnesen, Gholson J. Lyon

Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017.
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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing

Kevin Judd McKernan, Heather E. Peckham, Gina L. Costa, Stephen F. McLaughlin, Yutao Fu, Eric F. Tsung, Christopher R. Clouser, Cisyla Duncan, Jeffrey K. Ichikawa, Clarence C. Lee, Zheng Zhang, Swati S. Ranade, Eileen T. Dimalanta, Fiona C. Hyland, Tanya D. Sokolsky, Lei Zhang, Andrew Sheridan, Haoning Fu, Cynthia L. Hendrickson, Bin Li, Lev Kotler, Jeremy R. Stuart, Joel A. Malek, Jonathan M. Manning, Alena A. Antipova, Damon S. Perez, Michael P. Moore, Kathleen C. Hayashibara, Michael R. Lyons, Robert E. Beaudoin, Brittany E. Coleman, Michael W. Laptewicz, Adam E. Sannicandro, Michael D. Rhodes, Rajesh K. Gottimukkala, Shan Yang, Vineet Bafna, Ali Bashir, Andrew MacBride, Can Alkan, Jeffrey M. Kidd, Evan E. Eichler, Martin G. Reese, Francisco M. De La Vega, Alan P. Blanchard

Genome Res. 2009 Sep;19(9):1527-41. doi: 10.1101/gr.091868.109.
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EGASP: the human ENCODE Genome Annotation Assessment Project

Roderic Guigó, Paul Flicek, Josep F. Abril1, Alexandre Reymond, Julien Lagarde, France Denoeud, Stylianos Antonarakis, Michael Ashburner, Vladimir B. Bajic, Ewan Birney, Robert Castelo, Eduardo Eyras, Catherine Ucla, Thomas R. Gingeras, Jennifer Harrow, Tim Hubbard, Suzanna E. Lewis, Martin G. Reese

Genome Biol. 2006;7 Suppl 1:S2.1-31.
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