Science

Germline Mutations in HOXB13 and Prostate-Cancer Risk
C.M. Ewing, A.M. Ray, E.M. Lange, K.A. Zuhlke, C.M. Robbins, W.D. Tembe, K.E. Wiley, S.D. Isaacs, D. Johng, Y. Wang, C. Bizon, G. Yan, M. Gielzak, A.W. Partin, V. Shanmugam, T. Izatt, S. Sinari, D.W. Craig, S.L. Zheng, P.C. Walsh, J.E. Montie, J. Xu, J.D. Carpten, W.B. Isaacs, and K.A. Cooney. N Engl J Med 2012; 366:141-149.

Detection of Low Prevalence Somatic Mutations in Solid Tumors with Ultra-Deep Targeted Sequencing
O. Harismendy, R.B. Schwab, L. Bao, J. Olson, S. Rozenzhak, S.K. Kotsopoulos, S. Pond, B. Crain, M.S. Chee, K. Messer, D.R. Link, K.A. Frazer. Genome Biology 2011, 12:R124 doi:10.1186/gb-2011-12-12-r124

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
M.A. Jones, S. Bhide, E. Chin, B.G. Ng, D. Rhodenizer, V.W. Zhang, J.J. Sun, A. Tanner, H.H. Freeze, M.R. Hegde. Genetics in Medicine. doi: 10.1097/GIM.0b013e318226fbf2

Deep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine
J. D. Holbrook, J.S. Parker, K.T. Gallagher, W.S. Halsey, A.M. Hughes, V.J. Weigman, P.F. Lebowitz and R. Kumar. Journal of Translational Medicine 2011, 9:119 doi:10.1186/1479-5876-9-119

Application of microdroplet PCR for large-scale targeted bisulfite sequencing
H.K. Komori, S.A. LaMere, A. Torkamani, G.T. Hart, S.K. Kotsopoulos, J. Warner, M.L. Samuels, J. Olson, S.R. Head, P. Ordoukhanian, P.L. Lee, D.R. Link, D.R. Salomon. Genome Res. gr.116863.110

Pipeline for Large-Scale Microdroplet Bisulfite PCR-Based Sequencing Allows the Tracking of Hepitype Evolution in Tumors
A. Herrmann, A. Haake, O. Ammerpohl, I. Martin-Guerrero, K. Szafranski, K. Stemshorn, M. Nothnagel, S.K. Kotsopoulos, J. Richter, J. Warner, J. Olson, D.R. Link, S. Schreiber, M. Krawczak, M. Platzer, P. Nürnberg, R. Siebert, J. Hampe. PLoS ONE 6(7): e21332. doi:10.1371/journal.pone.0021332

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
K. Hopp, C.M. Heyer, C.J. Hommerding, S.A. Henke, J.L. Sundsbak, S. Patel, P. Patel, M.B. Consugar, P.G. Czarnecki, T.J. Gliem, V.E. Torres, S. Rossetti and P.C. Harris. Hum Mol Genet. 2011 Apr 27.

Targeted sequencing of the human X chromosome exome
K. Mondal, A.C. Shetty, V. Patel, D.J. Cutler, M.E. Zwick. Genomics (2011), doi:10.1016/j.ygeno.2011.04.004

Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors
C.M. Robbins, W.A. Tembe, A. Baker, S. Sinari, T. Y. Moses, S. Beckstrom-Sternberg, J. Beckstrom-Sternberg, M. Barrett, J. Long, A. Chinnaiyan, J. Lowey, E. Suh, J.V. Pearson, D.W. Craig, D.B. Agus, K.J. Pienta and J.D. Carpten. Genome Res. 2011 21: 47-55

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
H. Hu, K. Wrogemann, V. Kalscheuer, A. Tzschach, H. Richard, S.A. Haas, C. Menzel, M. Bienek, G. Froyen, M. Raynaud, H. Van Bokhoven, J. Chelly, H. Ropers, and W. Chen. The HUGO Journal, 2009. Volume 3, Numbers 1-4, 41-49

Microdroplet-based PCR enrichment for large-scale targeted sequencing
R. Tewhey, J. Warner, M. Nakano, B. Libby, M. Medkova, P. David, S. Kotsopoulos, M. Samuels, J.B. Hutchinson, J.W. Larson, E. J. Topol, M.P. Weiner, O. Harismendy, J. Olson, D.R. Link, and K.A. Frazer. Nature Biotechnology, November 2009. 10.1038/nbt.1583

Quantitative and sensitive detection of rare mutations using droplet-based microfluidics
D. Pekin, Y. Skhiri, J. Baret, D. Le Corre, L. Mazutis, C. Ben Salem, F. Millot, A. El Harrak, J. B. Hutchison, J.W. Larson, D.R. Link, P. Laurent-Puig, A.D. Griffiths and V. Taly, Lab on a Chip 2011, DOI: 10.1039/C1LC20128J.

Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR
Q. Zhong, S. Bhattacharya, S. Kotsopoulos, J. Olson, V. Taly, A.D. Griffiths, D.R. Link and J.W. Larson, Lab on a Chip 2011, DOI: 10.1039/C1LC20126C.

Sequencing technologies – the next generation
M.L. Metzker. Nature Reviews-Genetics, January 2010

Methods for genomic partitioning
E.H. Turner, S.B. Ng, D.A. Nickerson, and J. Shendure, Annu. Rev. Genomics Hum. Genet. 2009. 10:11.1–11.22

Overview: Methods and applications for droplet compartmentalization of biology,
J.H. Leamon, D.R. Link, M. Egholm and J. M. Rothberg, Nature Methods, July 2006.

High-resolution dose–response screening using droplet-based microfluidics
O.J. Miller, A. El Harrak, T. Mangeat, JC. Baret, L. Frenz, B. El Debs, E. Mayot, M.L. Samuels, E.K. Rooney, P. Dieu, M. Galvan, D.R. Link, and A.D. Griffiths, PNAS. January 10, 2012 vol. 109 no. 2 378-383.

Droplet microfluidic technology for single-cell high-throughput screening
E. Brouzes, M. Medkova, N. Savenelli, D. Marran, M. Twardowski, J.B. Hutchison, J.M. Rothberg, D.R. Link, N. Perrimon, M.L. Samuels, PNAS, 106, 14195 (2009).

Droplet-based microfluidic systems for high-throughput single DNA molecule isothermal amplification and analysis
L. Mazutis, A.F. Araghi, O.J. Miller, J.C. Baret, L. Frenz, A. Janoshazi, V. Taly, B.J. Miller, J.B. Hutchison, D. Link, A.D. Griffiths, M. Ryckelynck, Anal. Chem., 81, 4813 (2009).

Fluorescence-activated droplet sorting (FADS): Efficient microfluidic cell sorting based on enzymatic activity
J.C. Baret, O.J. Miller, V. Taly, M. Ryckelynck, A. El-Harrak, L. Frenz, C. Rick, M.L. Samuels, J.B. Hutchison, J.J. Agresti, D.R. Link, D.A. Weitz and A.D. Griffiths, Lab Chip, 9, 1850 (2009).

Detection and analysis of low-abundance cell-surface biomarkers using enzymatic amplification in microfluidic droplets
H.N. Joensson, M.L. Samuels, E.R. Brouzes, M. Medkova, M. Uhlen, D.R. Link, H. Andersson-Svahn, Angew. Chem. Int. Ed, 48, 2518 (2009).

Reliable microfluidic on-chip incubation of droplets in delay-lines
L. Frenz, K. Blank, E. Brouzes and A. D. Griffiths. Lab on a Chip 2009, 9, 1344 - 1348, DOI: 10.1039/b816049j

High-throughput quantitative polymerase chain reaction in picoliter droplets
M.M. Kiss, L. Ortoleva-Donnelly, N.R. Beer, J. Warner, C.G. Bailey, B.W. Colston, J.M. Rothberg, D.R. Link, and J.H. Leamon. Anal Chem. 2008 December 1; 80(23): 8975–8981.