Leading with science.

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Invitae's ASHG 2014 poster lineup.

#1431S

Next-generation sequencing reveals the presence and positions of novel duplications in clinical samples.
M. Kennemer, V. Semenysty, N. Patil, C. Hartshorne, M. Rabideau, A. Agbarya, Y. Kaplan, A. Dvir, L. Soussan-Gutman, K. Jacobs, M. Powers, J. Paul, S. Topper

#1455S

Kragle: a new local de novo assembler and genotype caller for short tandem repeats and other complex variations.
K. Konvicka, K. B. Jacobs, K. Nykamp, N. Patil, M. Cargill, C. Kautzer, S. A. McCalmon

#2415S

Genetic test recipient as a source of data: A novel approach to obtaining genotypic and phenotypic data for input into genomic databases.
B. E. Kirkpatrick, E. Riggs, M. Giovanni, R. Green, A. Janze, P. Krautscheid, J. Krier, C. L. Martin, D. Metterville, D. Miller, M. Murray, H. Rehm, D. Riethmaier, W. Rubinstein, B. Smith-Packard, C. Tan, K. Wain, W. A. Faucett on behalf of the Clinical Genome (ClinGen) Resource

#2444S

Clinical and technical evaluation of NGS-based testing for hereditary cancer syndromes.
S. Lincoln, A. Kurian, A. Desmond, M. Gabree, Y. Kobayashi, M. Anderson, G. Nilsen, S. Yang, R. Hart, K. Jacobs, K. Shannon, L. Ellisen, J. Ford

#2508M

MLPAseq: Assaying genomic copy number variation using multiplex ligation-dependent probe amplification paired with high-throughput sequencing.
Dan J. Kvitek

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