Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inconsistencies in...
Genome Sequencing and Variant Annotation Genome sequencing was performed at the Centre for Applied Genomics (Toronto, Ontario, Canada) using established methods,8 with high-quality DNA extracted from whole blood. In brief, library preparation was performed from 500 ng of DNA using the TruSeq Nano ...
The genome sequencing data were assembled using an in-house pipeline. In brief, reads were filtered and trimmed based on quality score then corrected using BFC [19]. The corrected reads were assembled using the SPAdes assembler [20]. The assembled contigs were corrected with Pilon [21]. After...
Nevertheless, all of them are extensively used in genomics, providing a rich resource for genome-wide association analysis, genetic epidemiology, and statistical research into the structure, function, and evolution of the human genome. Recently, multiple research efforts were based on trans-biobank ...
A. (2009). "Landscape genomics: a brief perspecitve," in Spatial Complexity, Informatics, and Wildlife Conservation (Tokyo: Springer), 165-175.Schwartz, M. K., G. Luikart, K. S. McKelvey, and S. A. Cushman 2009. Landscape genomics: a brief perspective. In: S. A. Cushman, and ...
The Zoonomia Project is investigating the genomics of shared and specialized traits in eutherian mammals. Here we provide genome assemblies for 131 species, of which all but 9 are previously uncharacterized, and describe a whole-genome alignmen
Current needs in genomics testing are not limited to additional appropriate reference samples but also include describing appropriate methods and guidelines for developing and verifying such a sample. Given the complexity and the magnitude of the number of variants required for a reference sample, it ...
The composition vector method used in this study has been described in previous publications [13–15] so we only give a brief account here. An organism is represented first by a raw composition vector whose components correspond to the number of various overlapping K-peptides (for a fixed K)...
Bannister LH, Hopkins JM, Fowler RE, Krishna S, Mitchell GH: A brief illustrated guide to the ultrastructure of Plasmodium falciparum asexual blood stages. Parasitol Today. 2000, 16 (10): 427-433. Article CAS PubMed Google Scholar Margos G, Bannister LH, Dluzewski AR, Hopkins J, William...
Genotyping of structural variation is an important computational problem in next generation sequence data analysis. However, in cancer genomes, the copy number variant(CNV) often coexists with other types of structural variations which significantly redu