Monthly Archives: August 2013

Late-replicating CNVs as a source of new genes

Posted on by
Reply

Late-replicating CNVs as a source of new genes
David Juan, Daniel Rico, Tomas Marques-Bonet, Oscar Fernandez-Capetillo, Alfonso Valencia
(Submitted on 31 Jul 2013)

Asynchronous replication of the genome has been associated with different rates of point mutation and copy number variation (CNV) in human populations. Here, we explored if the bias in the generation of CNV that is associated to DNA replication timing might have conditioned the birth of new protein-coding genes during evolution. We show that genes that were duplicated during primate evolution are more commonly found among the human genes located in late-replicating CNV regions. We traced the relationship between replication timing and the evolutionary age of duplicated genes. Strikingly, we found that there is a significant enrichment of evolutionary younger duplicates in late replicating regions of the human and mouse genome. Indeed, the presence of duplicates in late replicating regions gradually decreases as the evolutionary time since duplication extends. Our results suggest that the accumulation of recent duplications in late replicating CNV regions is an active process influencing genome evolution.

Most viewed on Haldane’s Sieve: July 2013

Posted on by
Reply

The most viewed preprints in July 2013 were:

SlopMap: a software application tool for quick and flexible identification of similar sequences using exact k-mer matching

Posted on by
Reply


SlopMap: a software application tool for quick and flexible identification of similar sequences using exact k-mer matching
Ilya Y. Zhbannikov, Samuel S. Hunter, Matthew L. Settles, James A. Foster
(Submitted on 31 Jul 2013)

With the advent of Next-Generation (NG) sequencing, it has become possible to sequence an entire genome quickly and inexpensively. However, in some experiments one only needs to extract and assembly a portion of the sequence reads, for example when performing transcriptome studies, sequencing mitochondrial genomes, or characterizing exomes. With the raw DNA-library of a complete genome it would appear to be a trivial problem to identify reads of interest. But it is not always easy to incorporate well-known tools such as BLAST, BLAT, Bowtie, and SOAP directly into a bioinformatics pipelines before the assembly stage, either due to in- compatibility with the assembler’s file inputs, or because it is desirable to incorporate information that must be extracted separately. For example, in order to incorporate flowgrams from a Roche 454 sequencer into the Newbler assembler it is necessary to first extract them from the original SFF files. We present SlopMap, a bioinformatics software utility which allows rapid identification similar to provided target sequences from either Roche 454 or Illumnia DNA library. With a simple and intuitive command- line interface along with file output formats compatible with assembly programs, SlopMap can be directly embedded in biological data processing pipeline without any additional programming work. In addition, SlopMap preserves flowgram information needed for Roche 454 assembler.