BACKGROUND The use of resequencing microarrays for screening multiple, candidate disease loci is a promising alternative to conventional capillary sequencing. We describe the performance of a custom resequencing microarray for mutational analysis of Congenital Myasthenic Syndromes (CMSs), a group of disorders in which the normal process of neuromuscular transmission is impaired. METHODOLOGY/P...

This paper studies the situation where multiple IP flows are aggregated over a single wireless channel and an error recovery by retransmissions is performed by Selective-Repeat (SR) ARQ. We propose MQ-PFRS (Multi-QoS Per-Flow Resequencing) ARQ that provides a differentiated service for an IP flow depending on its QoS class, such as real-time or non-real-time. MQ-PFRS ARQ eliminates interference...

Whole-genome oligonucleotide resequencing arrays have allowed the comprehensive discovery of single nucleotide polymorphisms (SNPs) in eukaryotic genomes of moderate to large size. With this technology, the detection rate for isolated SNPs is typically high. However, it is greatly reduced when other polymorphisms are located near a SNP as multiple mismatches inhibit hybridization to arrayed oli...

Detection of rare variants by resequencing is important for the identification of individuals carrying disease variants. Rapid sequencing by new technologies enables low-cost resequencing of target regions, although it is still prohibitive to test more than a few individuals. In order to improve cost trade-offs, it has recently been suggested to apply pooling designs which enable the detection ...

An important characteristic of any TCP connection is the sequencing of packets within that connection. Out-of sequence packets indicate that the connection suffers from loss, duplication or reordering. More generally, in many distributed applications information integrity requires that data exchanges between different nodes of a system be performed in a specific order. However, due to random de...

MOTIVATION Eugene Myers in his string graph paper suggested that in a string graph or equivalently a unitig graph, any path spells a valid assembly. As a string/unitig graph also encodes every valid assembly of reads, such a graph, provided that it can be constructed correctly, is in fact a lossless representation of reads. In principle, every analysis based on whole-genome shotgun sequencing (...

Second-generation sequencing technologies allow surveys of sequence variation on an unprecedented scale. However, despite the rapid decrease in sequencing costs, collecting whole-genome sequence data on a population scale is still prohibitive for many laboratories. We have implemented an inexpensive, reduced representation protocol for preparing resequencing targets, and we have developed the a...

The whole genome resequencing was used to develop single nucleotide polymorphisms (SNP) markers for the yellow catfish (Tachysurus fulvidraco). A total of 46 SNP from 129 individuals were selected 5550676 genotyping which distributed on 26 chromosomes. Of SNPs analyzed, 35 conformed Hardy-Weinberg equilibrium. observed and expected heterozygosity these ranged 0.2519 0.771 0.265 0.5018, respecti...