Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...

Recently, Wu et al. [4] have proposed the sequence kernel machine test (SKAT) to test association between genetic variants in a gene or region and a continuous or binary trait. SKAT, which uses the kernel machine regression framework, is very flexible and computationally efficient. From extensive simulation studies and real data application, it has been shown that SKAT is more powerful than the...

hearing loss (hl) is the most common communication disorder affecting about 1/1000 births worldwide caused by environmental or genetic factors. about 30-50% is attributed to genetic factors and till now more than 85 genes have been implicated in non-syndromic hl. in iran, hl is second to intellectual disability as the most common disability, affecting 1 of every 166 persons. about 15 years ago ...

context: detection of causative pathogen is crucial for treatment strategies in most infections. molecular diagnosis as a more sensitive and specific method, has become the best option to investigate certain pathogens, mainly viruses. recent scientific and technological approaches resulted in changing the area of diagnostic microbiology. evidence acquisition: a comprehensive online search of da...

given the importance of transcriptome analysis in various biological studies and considering thevast amount of whole transcriptome sequencing data, it seems necessary to develop analgorithm to assemble transcriptome data. in this study we propose an algorithm fortranscriptome assembly in the absence of a reference genome. first, the contiguous sequencesare generated using de bruijn graph with d...

Mutations in the p53 gene are frequent genetic alterations in human hepatocellular carcinomas. We have examined 13 cases of human hepatocellular carcinomas from Germany for the presence of p53 aberrations in exons 4 to 8 of the gene by single-strand conformation polymorphism and restriction fragment-length polymorphism analyses and by sequenc ing of polymerase chain reaction products. Single ba...