Báo cáo y học: "Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes" ppsx

... estimate of the results of a particular study; specifically it shows how the effect size of the study varies from zero. The size of the square shows the weighed individual contribution of the study ... disorders not otherwise specified (EDNOS). The aetiology of EDs remains unknown. There has been increasing interest in the study of the neuropsychological func...

Ngày tải lên: 09/08/2014, 01:21

... While these values contribute to the fit- ness of a set, the size of the set plays a much greater role in an effort to reduce the number of probes needed and thus the cost of the array. Therefore, ... groupings obtained from the similarity of the observed hybridization patterns for the hypothetical 4000-probe microarray of randomly sampled 18-mers at least two c...

Ngày tải lên: 23/03/2014, 11:20

... Annals of General Psychiatry 2010, 9:18 http://www.annals-general-psychiatry.com/content/9/1/18 Page 2 of 4 Given the important role of sigma-1 receptors in the regulation of neurotransmitter systems, ... antipsychotic drugs should be monitored for a variety of adverse events, including hypotension, dystonia, extrapyramidal effects, laryngeal spasm, malignant hyperthermia, glu...

Ngày tải lên: 08/08/2014, 23:21

... contribution of these hypnotics on the efficacy of fluvoxamine for delirium. A further study of fluvoxamine alone will be necessary. Delirium is theorised to be a neurobehavioural mani- festation of imbalances ... in the mechanism underlying the beneficial effects of fluvoxam- ine against the postoperative delirium of these patients. In order to confirm the role of s...

Ngày tải lên: 08/08/2014, 23:21

... homozygous in gDNA and yet heterozygous in cDNA, and the median coverage for these SNVs in gDNA was only 12×, compared to 28× for SNVs that matched for zygosity. It is likely that many of the ... in the design of the study, performed analyses, and drafted the paper. AS performed analyses and processed the cDNA reads. KVS super- vised the sequencing of gDNA and cDNA....

Ngày tải lên: 09/08/2014, 20:22

... anticipated. These factors significantly reduced the power of the study. Based on their findings, the authors estimate that more than 100 hospitals would be needed to show the 30% difference they sought. ... clear benefit for MET may take longer than the 6-month period of this study. Contamination of control hospitals also may have been an issue. Though they did not re...

Ngày tải lên: 25/10/2012, 10:39

... involved in research or the management of patients have a sound grasp of at least the basics of statistical methods. Unfortunately, in practice this is often not true, with many relying on distant ... http://ccforum.com/content/6/1/003 The science of statistics is increasingly employed in all fields of medicine. Statistical techniques are used not only by academics and clinici...

Ngày tải lên: 25/10/2012, 10:45

... were exclusively heterozygous M/F a t the a s1 -Cas locus. There- fore, analysis o f their transcripts could have been rather difficult because of the occurrence of at least nine different forms of messenger ... [27]. Unfortunately, we could not obtain enough material to synthesize cDNA. However, as expected from the phen otypic analysis (at the p rotein level), the f ew an...

Ngày tải lên: 22/02/2014, 04:20

... although the HGGG loop was a critical structural element for the catalytic efficiency of the enzyme, the cold adaptation of the enzyme could not be attributed to the presence of the Gly cluster ... chain. The presence of the additional Gly at position 261 possibly offers increased flexibility to the adjacent residue Trp260 that forms part of the active site and...

Ngày tải lên: 22/02/2014, 04:20

... the content of secondary structure only after the disruption of the native tertiary structure of RNase A (Figs 2–4). Interestingly, the preservation of the tertiary structure coincides with the ... significant changes of the spectroscopic properties of the enzyme could be detected. Therefore, the decrease of the proteolytic susceptibility has to be attributed...

Ngày tải lên: 22/02/2014, 07:20