摘要:
The present disclosure presents a unified system to phase a personal genome for downstream clinical interpretation. In an embodiment, an initial phasing is generated using public datasets, such as haplotypes from the 1000 Genomes Project, and a phasing toolkit. A local perturbation algorithm is applied to improve long range phasing. If available, a Mendelian inheritance pipeline is applied to identify phasing of novel and rare variants. These datasets are merged, followed by correction by any experimental data. This allows for full clinical interpretation of the role of a group of variants in a gene, whether inherited or de novo variants.
摘要:
The present disclosure presents a unified system to phase a personal genome for downstream clinical interpretation. In an embodiment, an initial phasing is generated using public datasets, such as haplotypes from the 1000 Genomes Project, and a phasing toolkit. A local perturbation algorithm is applied to improve long range phasing. If available, a Mendelian inheritance pipeline is applied to identify phasing of novel and rare variants. These datasets are merged, followed by correction by any experimental data. This allows for full clinical interpretation of the role of a group of variants in a gene, whether inherited or de novo variants.
摘要:
In an embodiment of the present invention, a modified version of the PHASE model is implemented that is substantially more accurate than the FastPHASE model. Modifications in an embodiment of the present invention include using a parameterization EM algorithm similar to that of the FastPHASE model, and to perform optimization on haplotypes rather than MCMC sampling. In an embodiment, the imputed haplotypes themselves are used as hidden states in the HMM because this is believed to be important for the PHASE model's accuracy. This increase in accuracy becomes more pronounced with increasing sample size. This difference is attributed to the PHASE model's likelihood which produces long, shared haplotypes between pairs of individuals.
摘要:
An optical apparatus with dual illuminating devices includes a body, a first lighting device, a pivoting arm, an actuating pin, a switch and a second lighting device. The body has a joint portion. The first lighting device is mounted in the body. The pivoting arm has a first end and a second end. The first end is pivotally mounted on the joint portion so that the pivoting arm can be adjusted between a first position and a second position relative to the body. The second lighting device is mounted on the second end of the pivoting arm. Rotating the pivoting arm drives the actuating pin to press the switch, which turns off the second lighting device and turns simultaneously on the first lighting device.
摘要:
An optical apparatus with dual illuminating devices includes a body, a first lighting device, a pivoting arm, an actuating pin, a switch and a second lighting device. The body has a joint portion. The first lighting device is mounted in the body. The pivoting arm has a first end and a second end. The first end is pivotally mounted on the joint portion so that the pivoting arm can be adjusted between a first position and a second position relative to the body. The second lighting device is mounted on the second end of the pivoting arm. Rotating the pivoting arm drives the actuating pin to press the switch, which turns off the second lighting device and turns simultaneously on the first lighting device.
摘要:
Compounds, pharmaceutical compositions and methods are provided that are useful in the treatment of inflammatory and immune-related diseases and conditions. In particular, the invention provides compounds which modulate the function and/or expression of proteins involved in atopic diseases, inflammatory conditions and cancer. The subject compounds are tetrahydroquinoline derivatives.
摘要:
A distance measuring system and method employing a laser distance sensor may have utility in various applications. In accordance with one aspect of the present invention, a laser distance sensor may acquire accurate distance measurements with a short baseline.
摘要:
Floating point multiply-accumulate (FMAC) instructions are processed by a logic circuit. A register file stores operands for a FMAC instruction. A multiplier multiplies an operand S1 and an operand S2 from the register file to produce a resultant operand St. An adder adds two operands St and Sd (which is the result of a prior accumulation) to produce the result Sd of the FMAC instruction. A reorder buffer (ROB) stores and reorders entries corresponding to FMAC instructions, and a hazard-checking block detects whether the FMAC instruction contains a potential hazard. A selector selects an output value from the ROB. The operands St and Sd can be supplied via one of a plurality of paths based on a priority of the paths, and the priority for the paths is based in part on output from the hazard-checking block and contents of the ROB.
摘要:
A distance measuring system and method employing a laser distance sensor may have utility in various applications. In accordance with one aspect of the present invention, a laser distance sensor may acquire accurate distance measurements with a short baseline.