The human genome of Homo sapiens is stored on 23 chromosome pairs. 22 of these are autosomal chromosome pairs, while the remaining pair is sex-determining. The haploid human genome occupies a total of just over 3 billion DNA base pairs that means 6 billion base pairs per diploid cell. "The...
Finally, we analyzed the type, structure, and regulation of repeats in the human genome and their role in the induction of complex diseases. We believe that this review will facilitate a comprehensive understanding of repeats and provide guidance for repeat annotation and in-depth exploration of ...
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human geno
This systematic discovery of recombinases directly from microbial sequencing data provides a resource of over 60 LSRs experimentally characterized in human cells for large-payload genome insertion without exposed DNA double-stranded breaks.Similar content being viewed by others Targeted DNA integration in ...
genome of the hominoid ancestor may have contributed to tail-loss evolution. We demonstrate that this Alu element—inserted into an intron of theTBXTgene7,8,9—pairs with a neighbouring ancestral Alu element encoded in the reverse genomic orientation and leads to a hominoid-specific alternative ...
The density of the human genome in sequence space.For every randomly generatedn-mer that was detected in the human genome, we generated all single basepair variants (3n variants for eachn-mer) and tested them to see if they were also represented in the human genome (1nn). We also genera...
We calculated the average mismatch rates by counting the number of base pairs that were not matching between the mapped read and the genome sequence and dividing this number by the length of the mapped read. Mismatches evaluated include soft clipping, insertion, deletion, and substitution mismatches...
In addition to directly quantifying simple AS events, this pipeline was also able to decompose the complex AS profiles into the five types of splice junction pairs and re-quantify each sub-splicing events. A previously described method based on corresponding algorithms was used to calculate and ...
a, Corresponding syntenic blocks between CA subgenomes subCC (orange) and subEE (blue), and with the CC (orange) and CE (blue) genomes.b, The base pairs in intergenic DNA in synteny block gaps caused by fractionation in a subCC–subEE comparison, compared with numbers of base pairs in...
but allowing for a user-specified number of mismatches. We set this mismatch tolerance to be four pairs of mismatched bases. The extension is constrained to be of same length on either side (i.e., insertions of unmatched base on only one side is not allowed). The edges of the extended ...