Leading with science.

Sign up to receive PDFs of our posters after the American Society of Human Genetics annual meeting.

Invitae's ASHG 2014 poster lineup.


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


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


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


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


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

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