Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Genome-wide association studies (GWAS) have proven to be a powerful method to identify common genetic variants contributing to susceptibility to common diseases. Here, we show that extremely low-coverage sequencing (0.1-0.5×) captures almost as much of the common (>5%) and low-frequency (1-5%) variation across the genome as SNP arrays. As an empirical demonstration, we show that genome-wide SNP genotypes can be inferred at a mean r(2) of 0.71 using off-target data (0.24× average coverage) in a whole-exome study of 909 samples. Using both simulated and real exome-sequencing data sets, we show that association statistics obtained using extremely low-coverage sequencing data attain similar P values at known associated variants as data from genotyping arrays, without an excess of false positives. Within the context of reductions in sample preparation and sequencing costs, funds invested in extremely low-coverage sequencing can yield several times the effective sample size of GWAS based on SNP array data and a commensurate increase in statistical power.     

具有三个CM公共值的亚纯函数的唯一性

本文指出仪洪勋和Brosch G在具有三个判别的CM公共值的亚纯函数的唯一性定理中,关于对数函数的导数是整函数的推导,可以用指数函数求导的方法来证明.改进了仪洪勋和Brosch G关于重值与唯一性定理.     

Immune-mediated glomerulonephritis induced by mercuric chloride in mice

Summary The BALB/c mouse developed mesangial deposits of immune constituents and light microscopical changes characteristic of immune complex glomerulonephritis after 8 weeks' treatment with mercuric chloride given by s.c. injection. There were no signs of linear of granular immune deposits along the glomerular capillary basement membrane after 2 or 8 weeks. The antigen could not be identified. No antibodies to nuclear or renal structures were found. Using a histochemical method (silver amplification) mercury was detected by light and electron microscopy in tubular and glomerular structures. Mercury was present in secondary lysosomes of the mesangial cells after eight weeks of mercury poisoning.We are deeply indebted to Dr. Gorm Danscher, Institute of Anatomy, B., University of Aarhus, Denmark, for valuable discussions and technical advice. This work was supported by the Swedish Medical Research Council, project no 6536.     

Pain relief by xenograft of subarachnoid microencapsulated bovine chromaffin cells in cancer patients

The bovine chromaffin cells (BCC) implanted into the subarachnoid space can release analgesic substances such as opioid peptides and ealeeholamines. Clinical trials have provided the evidence that the implantation of polyvinylchloride ( PVC) hollow fiber encapsulated BCC by surgery can relief the pain in cancer patients. In the present study, BCC were encapsulated in alginate-polylysine-alginate (APA) mieroencapsules which protect the grafting of xenogeneic cells from host immune system anil allow BCC to function effectively without using immunosuppression agents. The microencapsulated BCCs (5 X 106~—8 X 106) were transplanted into the subarachnoid space I^._s of 17 patients who suffered from chronic cancer pain and had to have long-term administration of analgesics. The pain scores and morphine intake tesl showed that microencapsulated BCC graft totally stopped the chronic pain in three of the patients over a period of 200 days and in the other three over a period of 100 days. The resulls suggesl thai APA microencapsulated BCC xenotransplantation could be a novel alternative approach to managing pain of cancer patients.     

A new method for determination of α-amylase

Zusammenfassung Für die Bestimmung der enzymatischen Aktivität der-Amylase wurde ein neues Substrat synthetisiert. Die Synthese kam in der Hauptsache durch die Farbstoffbindung an wasserlösliche Stärke und die anschliessende Vernetzung sowie durch den Zusatz von Diepoxid zustande.