UConn BioGrid REU 2008 SNP Individual Genotyping from Low-Coverage Sequencing Data
نویسندگان
چکیده
Whole genomes can now be sequenced thanks to next-generation sequencing technologies. Costeffective sequencing of individual genomes would make it possible for genetic analysis to become commonplace, particularly for medical applications. However, sequencing data is only useful if information of value can be reliably extracted from it. Single nucleotide polymorphism, or SNP, genotyping from low-coverage sequencing data is a problem of particular importance. Here, we describe methods we have explored to produce accurate and reliable SNP genotypes from relatively low-coverage data obtained from newer shotgun sequencing technologies, in conjunction with information from reference panels such as the HapMap project.
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تاریخ انتشار 2008