Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: Surgical instruments for interfacing with implants can include an inserter configured to dock to a unilateral portion of an implant. The inserter can include a control shaft that is configured to lock or unlock the inserter coupling with the implant. Actuation of the control shaft can occur by way of a knob that can control movement of the control shaft. The inserter can facilitate positioning of the implant relative to a surgical site and allow for application of counter-torque when imparting torque for tightening a set screw, etc. Additional instruments can also be used to manipulate the implant. For example, auxiliary instruments can be coupled to the inserter, such as a reducer instrument, to facilitate rod reduction, etc. Alternatively or in addition, a holder instrument can be used that has a threaded distal engagement feature for coupling to the implant to facilitate positioning thereof.

Abstract: The present disclosure relates to a laboratory execution system that provides for automation of laboratory processes. A centralized data management system may be dynamically updated and used to facilitate management of components of the laboratory execution system, such as an automation system and an analytics results management system that may facilitate complex analytical functions, such as synthesizing raw test data. Potential workflows include the detection of specific molecules of interest.

Abstract: The present disclosure relates to a laboratory execution system that provides for automation of laboratory processes. A centralized data management system may be dynamically updated and used to facilitate management of components of the laboratory execution system, such as an automation system and an analytics results management system that may facilitate complex analytical functions, such as synthesizing raw test data. Potential workflows include the detection of specific molecules of interest.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: Capture probe libraries can be used to enrich a region of interest in a sequencing library for high-depth sequencing. The capture probes within the capture probe libraries often do not function in a predictable or uniform manner. Described herein are balanced capture probe libraries and methods of balancing capture probe libraries. A sequencing library can be enriched using balanced capture probe libraries, and the enriched sequencing library can be sequenced to obtain a sequencing depth closer to a desired sequencing depth.

Abstract: This invention concerns a system for cooling components in a gas turbine engine, the gas turbine engine including a compressor for driving a primary gas flow to a combustor and a turbine arranged to be driven by combustion gases from the combustor, wherein the system includes: an annular cooling flow passage arranged for fluid communication between the compressor and the turbine, the flow passage having a first inlet arranged to receive gas from the primary gas flow downstream of compressor, and a second inlet located upstream of the first inlet, wherein the annular cooling flow passage has at least one internal wall for guiding airflow from the first inlet towards the airflow from the second inlet, the airflow from the first and second inlets coalesce within the annular flow passage prior to passing along the passage in a direction from the compressor to the turbine.

Abstract: Prenatal genetic testing allows early detection of genetic disease in a fetus. Described herein are methods of detecting the presence or absence of a genetic variant in a region of interest in the genome of a fetus in a pregnant woman. The methods are noninvasive, and can use cell-free DNA (cfDNA) present in the plasma of the pregnant woman. A DNA library is constructed from the cfDNA, and DNA molecules comprising the region of interest or portions thereof are enriched and analyzed, for example by sequencing. The methods described herein can also rely on constructing a maternal haplotype to provide even higher resolution fetal genetic variant determination.

Abstract: A gas turbine engine comprising at least one drum pack having two or more annular discs 62a-c. Adjacent discs 62a-c are connected by drive arms 68 the drum pack is provided with a tubular sealing body 84 positioned radially inwards of the drive arms 68 and extending from a first disc 62a to a last disc 62c in the drum pack. The first 62a and last 62c discs have the greatest axial separation of all discs 62a-c in the drum pack. The sealing body 84 engaging the first 62a and last 62c discs and the engagement being arranged to limit or prevent the ingress of liquid into a drum cavity 76 defined between the first 62a and last 62c discs, the drive arms 68 and the sealing body 84.

Abstract: The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

Abstract: A method of determining the axial load on load-sharing thrust bearings including: providing first and second thrust bearings, each including an inner race and an outer race supported by at least one resilient element; applying a test axial load to each of the first and second thrust bearings to elastically deform the at least one resilient element so as to axially displace the outer race; determining the test axial displacement of each outer race to obtain calibration data comprising values of axial load versus axial displacement; applying an in-service axial load to the first and second thrust bearings to elastically deform the resilient elements so as to axially displace the respective outer races; measuring the in-service axial displacement of each outer race; and based on the measured in-service axial displacements, inferring from the calibration data the values of the in-service axial loads on the first and second thrust bearings.

Abstract: A bearing arrangement is disclosed. The bearing arrangement includes first and second bearings, with each bearing including a respective support element and a respective set of rolling elements and defining a respective load path extending through the respective support element and rolling elements. The support elements are coupled such that a load applied to either support element is transmitted through both the first and second load paths. The arrangement further includes a pair of superelastic titanium alloy elements located in the respective load paths to provide resilient movement between the bearings when a load is applied to the bearing arrangement.

Abstract: A method of determining the axial load on load-sharing thrust bearings including: providing first and second thrust bearings, each including an inner race and an outer race supported by at least one resilient element; applying a test axial load to each of the first and second thrust bearings to elastically deform the at least one resilient element so as to axially displace the outer race; determining the test axial displacement of each outer race to obtain calibration data comprising values of axial load versus axial displacement; applying an in-service axial load to the first and second thrust bearings to elastically deform the resilient elements so as to axially displace the respective outer races; measuring the in-service axial displacement of each outer race; and based on the measured in-service axial displacements, inferring from the calibration data the values of the in-service axial loads on the first and second thrust bearings.

Abstract: A bearing arrangement comprises: first and second thrust bearings, each including an inner race which is disposed on a shaft and an outer race which is supported by at least one resilient element. Applying a shaft thrust load elastically deforms the resilient elements so as to axially displace the respective outer races in order that the thrust load is shared between the first and second thrust bearings.

Abstract: A turbine secondary air system seal arrangement (62). The arrangement comprises a first seal land (70) facing radially inwardly; a second seal land (80) facing radially outwardly; and first labyrinth seal teeth (76) directed radially outwardly to seal against the first seal land (70). Also second labyrinth seal teeth (78) directed radially inwardly to seal against the second seal land (80). The first seal land (70) is configured to move radially relative to the second seal land (80) or the first seal teeth (76) are configured to move radially relatively to the second seal teeth (78) to accommodate differential movement of the lands (70, 80) and teeth (76, 78) during use of the seal arrangement (62).

Abstract: Processes and systems for reading variants from a genome sample relative to a reference genomic sequence are provided. An exemplary process includes collecting a set reads and generating a k-mer graph from the reads. For example, the k-mer graph can be constructed to represent all possible substrings of the collected reads. The k-mer graph may be reduced to a contiguous graph, and a set of possible haplotypes generated from the contiguous graph. The process may further generate, the error table providing a filter for common sequencer errors. The process may then generate a set of diplotypes based on the set of haplotypes and the generated error table and score the set of diplotypes to identify variants from the reference genome. Scoring the diplotypes may include determining a posterior probability for each of the diplotypes, with the highest scoring diplotype(s) reported as the result.

Abstract: A bearing arrangement comprises: first and second thrust bearings, each including an inner race which is disposed on a shaft and an outer race which is supported by at least one resilient element. Applying a shaft thrust load elastically deforms the resilient elements so as to axially displace the respective outer races in order that the thrust load is shared between the first and second thrust bearings.