Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
نویسندگان
چکیده
منابع مشابه
Simultaneous Structural Variation Discovery in Multiple Paired-End Sequenced Genomes
As whole genome shotgun sequencing (WGSS) becomes more accessible using high-throughput sequencing technologies, undertaking comparative studies among different individuals (based on population, race, or genetic disease) is the next logical step. In this paper, we propose a paradigm shift in variation comparative studies (specifically structural variation) away from the conventional two step ap...
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With the increasing popularity of whole-genome shotgun sequencing (WGSS) via high-throughput sequencing technologies, it is becoming highly desirable to perform comparative studies involving multiple individuals (from a specific population, race, or a group sharing a particular phenotype). The conventional approach for a comparative genome variation study involves two key steps: (1) each paired...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2015
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2015.05.012