TL;DRAbstract
Contained within the nucleus of each mammalian diploid cell are found two genomes, a maternally and a paternally inherited copy. Recent studies have begun to better characterize the extent of variation between genomes increasing the previous estimates five-fold. These variations are not just located in the large intergenic regions of the genome called gene desserts, but are often found in gene coding sequences and gene regulatory regions. It is becoming increasingly clear that allelic resolution of genomic variation, transcript bias, and protein-DNA interactions is important in understanding the true cellular state of diploid cells. To date, allele- level examination has been left unstudied in large part due to a lack of large-scale technologies capable of resolving alleles. In this work, we describe the development of a novel technology, named RNA Digital Expression Profiling (RDEP), which allows discreet quantification of RNA levels by counting single molecules in a high-throughput a
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Contained within the nucleus of each mammalian diploid cell are found two genomes, a maternally and a paternally inherited copy. Recent studies have begun to better characterize the extent of variation between genomes increasing the previous estimates five-fold. These variations are not just located in the large intergenic regions of the genome called gene desserts, but are often found in gene coding sequences and gene regulatory regions. It is becoming increasingly clear that allelic resolution of genomic variation, transcript bias, and protein-DNA interactions is important in understanding the true cellular state of diploid cells. To date, allele- level examination has been left unstudied in large part due to a lack of large-scale technologies capable of resolving alleles. In this work, we describe the development of a novel technology, named RNA Digital Expression Profiling (RDEP), which allows discreet quantification of RNA levels by counting single molecules in a high-throughput a
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