CIDR
Text Box: CIDR NEWS
September 2011
Volume 1, Issue 1

CIDR will be at the upcoming American Society of Human Genetics Meeting in Montreal October 11-15, 2011. Visit Booth #006 for the latest information about our products and services. These 14 scientific posters and platform presentations involve work performed at CIDR:

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SEQUENCING

CIDRSeqSuite 2.0: An Automated Analysis Pipeline for Next-Generation Sequencing. Michael W. Barnhart, Sean M.L. Griffith, Kurt N. Hetrick, Janet L. Goldstein, Beth A. Marosy, David W. Mohr, Brian D. Craig, Lee Watkins, Jr., and Kimberly F. Doheny.Center for Inherited Disease Research

Quality assurance of variant calling (SNV and Indels) using next-generation sequencing (NGS) data.H. Ling, H. Kurt, E. Pugh, J. Romm, B. Craig, B. Marosy, K. Doheny.Center for Inherited Disease Research

Using linkage data to prioritize analysis of data from whole exome sequencing.T. Foroud1, D. Koller1, D. Lai1, H.Lin1, N. Pankratz1, Y. Liu1, R. Deka2, L. Sauerbeck2, H. Ling3, K. Doheny3, E. Pugh3, J. Broderick2.Center for Inherited Disease Research & Indiana Univ Sch Med

Comparison of Library Construction Methods and Evaluation of Whole Exome Capture Products for Next-Gen Sequencing. B Craig, K Hetrick, B Marosy, J Romm, H Ling, E Pugh, KF Doheny.Center for Inherited Disease Research

Low DNA input optimization using Agilent SureSelect XT Library Prep and Whole Exome Selection for Next Generation Sequencing.B Marosy, B Craig, K Hetrick, KF Doheny.Center for Inherited Disease Research

Sequencing Workflow at a Medium-Scale Genomics Center.Jane M. Romm, Beth A. Marosy, Brian D. Craig, Kurt N. Hetrick, Hua Ling, Michael W. Barnhart, Sean M.L. Griffith, Elizabeth Pugh, Kimberly F. Doheny.Center for Inherited Disease Research

Using GWAs SNP arrays for quality control of DNA sequencing data. K. Hetrick, H. Ling, E. W. Pugh, B. D. Craig, B. A. Marosy, J. M. Romm, K. F. Doheny. Center for Inherited Disease Research

Whole-exome sequencing of 19 hereditary prostate cancer families with aggressive or early-onset disease. L. M. FitzGerald, A. Kumar, L. McIntosh, E. A. Ostrander, E. W. Pugh, H. Ling, K. F. Doheny, J. Shendure, J. L. Stanford. Fred Hutchinson Cancer Research Center, National Human Genome Research Institute & Center for Inherited Disease Research

Identification of a frameshift mutation in HMGB3 (MIM 300193) in a family with Lenz microphthalmia (MCOPS1; MIM 302300). A. F. Scott, D. W. Mohr, L. M. Kasch, J. A. Barton, B. Craig, B. A. Marosy, K. F. Doheny, W. C. Bromley, T. Roderick, E. W. Jabs. Johns Hopkins Univ Sch Med, Ctr for Human Genetics Bar Harbor ME & Mount Sinai Sch Med

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GENOTYPING

The CIDR Infinium WebLIMS: A Modular, Multi-Product Laboratory Information Management System for Illumina Infinium Genotyping Platforms.D. Leary, M. Barnhart, J. Goldstein, B. Craig, J. Romm, K. Doheny, L. Watkins, Jr.Center for Inherited Disease Research

High Through-Put Genotyping at CIDR.M. Hurley, M. Zilka, C. Ongaco, J. Romm, K. Doheny.Center for Inherited Disease Research

Somatic mosaicism of large chromosomal anomalies in blood cells of normal adults. C. C. Laurie, C. A. Laurie, K. Doheny, L. Zelnick, C. McHugh, J. Shen, X. Zheng, H. Ling, K. Hetrick, E. Pugh, D. Mirel, C. Amos, T. Beaty, L. Bierut, N. Caporaso, N. Freedman, E. Feingold, J. Li, C. Haiman, J. Heit, W. Lowe, T. Manolio, M. Marazita, J. Murray, L. Pasquale, G. Jarvik, I. Ruczinski, V. Seshan, B. Weir, GENEVA Consortium.Univ Washington, Center for Inherited Disease Research, Broad Institute, MD Anderson Cancer Center, Johns Hopkins University, Washington University School of Medicine, National Cancer Institute, University of Pittsburgh, University of Michigan, University of Southern California, Mayo Clinic, Northwestern University, , National Human Genome Research Institute, University of Iowa, Harvard University & Memorial Sloan-Kettering Cancer Center

Detecting sample contamination using array-based genotype data. M. Flickinger, G. Jun, K. F. Doheny, J. Romm, K. N. Hetrick, G. R. Abecasis, M. Boehnke, H. M. Kang. University of Michigan & Center for Inherited Disease Research

'Next Generation' Imputation: Assessing the 1000 Genomes Project reference panel and imputation into multi-ethnic cohorts. S. C. Nelson, C. C. Laurie, B. L. Browning, S. M. Gogarten, J. Li, M. Sale, B. B. Worrall, K. Doheny, E. Bookman, GARNET Collaborative Research Group.University of Washington, University of Michigan, University of Virginia, Center for Inherited Disease Research & National Human Genome Research Institute

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