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Sarah S. Kalia et al.
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Michael A. Eberle et al.
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Bowang Chen et al.
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Zachary D. Stephens et al.
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Qing Mao et al.
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Qi Yan et al.
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Laura M. Amendola et al.
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An analytical framework for optimizing variant discovery from personal genomes
Gareth Highnam et al.
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Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics
Benjamin J. Kelly et al.
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iCall: a genotype-calling algorithm for rare, low-frequency and common variants on the Illumina exome array
Jin Zhou et al.
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Comparison of genotype clustering tools with rare variants
Louis-Philippe Lemieux Perreault et al.
BMC BIOINFORMATICS (2014)
Screening tests: a review with examples
L. Daniel Maxim et al.
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Justin M. Zook et al.
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Illumina human exome genotyping array clustering and quality control
Yan Guo et al.
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Michael O. Dorschner et al.
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Morgan Mayer-Jochimsen et al.
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Megan L. Grove et al.
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Jason O'Rawe et al.
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Goo Jun et al.
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zCall: a rare variant caller for array-based genotyping
Jacqueline I. Goldstein et al.
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Michael Petros
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Genomic Position Mapping Discrepancies of Commercial SNP Chips
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Matthew E. Ritchie et al.
BMC BIOINFORMATICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
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Monnat Pongpanich et al.
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Cathy C. Laurie et al.
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Joshua M. Korn et al.
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Gabrielle S. Sellick et al.
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Estimating genotyping error rates from Mendelian errors in SNP array genotypes and their impact on inference
Ian W. Saunders et al.
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F Pompanon et al.
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K Walters
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K Hao et al.
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