Massively parallel sequencing technologies continue to alter the study of human genetics. As the cost of sequencing declines, next-generation sequencing (NGS) instruments and data...
Daniel C. Koboldt, Li Ding, Elaine R. Mardis, Rich...
Background: Whole genome sequence data is a step towards generating the 'parts list' of life to understand the underlying principles of Biocomplexity. Genome sequencing ...
Urmila Kulkarni-Kale, Shriram Bhosle, G. Sunitha M...
Abstract. Clusters of genes that evolved from single progenitors via repeated segmental duplications present significant challenges to the generation of a truly complete human geno...
Adam C. Siepel, Eric D. Green, Giltae Song, Tom&aa...
Background: Understanding transcriptional regulation of gene expression is one of the greatest challenges of modern molecular biology. A central role in this mechanism is played b...
Background: As more and more genomes are sequenced, comparative genomics approaches provide a methodology for identifying conserved regulatory elements that may be involved in gen...