Báo cáo y học: " Computational and statistical approaches to analyzing variants identified by exome sequencing" pdf

... 2010 BioMed Central Ltd Computational and statistical approaches to analyzing variants identied by exome sequencing Nathan O Stitziel 1,2† , Adam Kiezun 2,3† and Shamil Sunyaev 2,3 * R EV IE W *Correspondence: ... sequencing technology has enabled the identication of thousands of single nucleotide polymorphisms in the exome, and many computational and statisti...

Ngày tải lên: 09/08/2014, 23:20

... Dnmt1. Kinetically this reaction scheme means that two methyl groups are always introduced, one slowly by Dnmt3a or by de novo methylation catalyzed by Dnmt1 and the second one very fast. Therefore, ... this effect can only double the rate of DNA methylation, because every turnover by Dnmt3a can trigger only one turnover by Dnmt1 in the opposite strand of the DNA. Consequently, th...

Ngày tải lên: 21/02/2014, 01:21

... factors grammatical relation (Re!), verb (Verb), and prob- ability band (Band). The factors Re! and Band had three levels each, and the factor Verb had 10 lev- els. This yielded a total ... the hy- ponymy/hypernymy relation. Certain modifications to the original GermaNet hierarchy were necessary for the implementation of Li and Abe's method (1998). The GermaNet noun hie...

Ngày tải lên: 08/03/2014, 21:20

... both rheumatology and preventive cardiology to advocate more aggressive risk factor assessment and management of risk factors [11–17]. There are theoretical and practical barri- ers to improving ... physicians were perfectly virtuous, sought out risk factors aggressively and followed guidelines scrupulously; and patients were toler- ant, compliant, and responsive to lipid-lo...

Ngày tải lên: 09/08/2014, 01:22

... be imperative to identify whether cell populations can be clearly distinguished before passage and, if so, to isolate the different cell types and analyze their proliferative, morphological and phenotypic ... Tukey's Honestly Significant Difference test was run to pinpoint any specific differences among groups. The significant groups were further analyzed by crossing coating...

Ngày tải lên: 09/08/2014, 10:21

... at Washington University in St Louis for chimpanzee and chicken, the Broad Institute for dog, and the Center for Bio- informatics and Computational Biology at the University of Maryland for cow. Detection ... assem- bly, thus alleviating the need to make any potentially biased assumptions. Though every assembly has its problems, a large majority of the sequence will be very accurate...

Ngày tải lên: 09/08/2014, 20:21

... A-agarose (Santa Cruz Biotechnology), washed four times with lysis buffer and analyzed by SDS/PAGE followed by autoradiography. Correction of MPS I fibroblasts by enzyme released from transduced cells MPS ... abnormalities, hepatosplenomegaly and neurological dysfunction. In this study, we used a late gen- eration lentiviral vector to evaluate the utility of this vector system for...

Ngày tải lên: 24/03/2014, 04:21

... sever- ity of community acquired pneumonia, proposed by the Japanese Respiratory Society. This scoring system assesses the following parameters: i) age (male ≥ 70 years, female ≥ 75 years); ii) dehydra- tion ... of death in the elderly. Complication of acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) by pneumonia makes patients very ill due to severe respiratory fa...

Ngày tải lên: 08/08/2014, 18:21

... hits detectable by Deshpande et al., and 48% of the Desh- pande hits detectable by us. For HU, the two screen hit lists overlap by 11 mutants, which represent 52% of our hits detectable by Deshpande et ... sensitivity of fission yeast cells to CPT can be completely abolished by a top1 mutation [37]. The top1 deletion mutant displayed mild sensitivity to HU and was among the...

Ngày tải lên: 09/08/2014, 20:22

... novel candidates and essential for understanding the contribution of susceptibility alleles to disease penetrance. Very recently, whole -exome analysis has been used successfully to identify the ... high-throughput sequencing and SNP genotyping to identify important candidates in disorders characterized by genetic and phenotypic heterogeneity. SHROOM3 encodes a cytoskelet...

Ngày tải lên: 09/08/2014, 23:20