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Gareth Highnam et al.
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Dfam: a database of repetitive DNA based on profile hidden Markov models
Travis J. Wheeler et al.
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Michael G. Ross et al.
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DELLY: structural variant discovery by integrated paired-end and split-read analysis
Tobias Rausch et al.
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Henry C. Lin et al.
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Filipe J. Ribeiro et al.
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GAGE: A critical evaluation of genome assemblies and assembly algorithms
Steven L. Salzberg et al.
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Ernest T. Lam et al.
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Sergey Koren et al.
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A hybrid approach for the automated finishing of bacterial genomes
Ali Bashir et al.
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AlleleSeq: analysis of allele-specific expression and binding in a network framework
Joel Rozowsky et al.
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Mapping copy number variation by population-scale genome sequencing
Ryan E. Mills et al.
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David A. Rasko et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
High-quality draft assemblies of mammalian genomes from massively parallel sequence data
Sante Gnerre et al.
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Pia R. Kamstrup
ATHEROSCLEROSIS (2010)
Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons
Rebecca C. Iskow et al.
CELL (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
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Eric E. Schadt et al.
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David Altshuler et al.
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Christopher E. Mason et al.
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Heng Li et al.
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Multiple whole-genome alignments without a reference organism
Inna Dubchak et al.
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Annette Damert et al.
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ALLPATHS 2: small genomes assembled accurately and with high continuity from short paired reads
Iain MacCallum et al.
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HapCUT: an efficient and accurate algorithm for the haplotype assembly problem
Vikas Bansal et al.
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Evaluation of paired-end sequencing strategies for detection of genome rearrangements in cancer
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Samuel Levy et al.
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Enhancements and modifications of primer design program Primer3
Triinu Koressaar et al.
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Emergence of primate genes by retrotransposon-mediated sequence transduction
Jinchuan Xing et al.
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Anton Valouev et al.
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Fine-scale structural variation of the human genome
E Tuzun et al.
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Whole-genome shotgun assembly and comparison of human genome assemblies
S Istrail et al.
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FS Collins et al.
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Glocal alignment: finding rearrangements during alignment
Michael Brudno et al.
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C Lee
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