Abstract: The invention provides compositions and methods for determining the fraction of fetal nucleic acids in a maternal sample comprising a mixture of fetal and maternal nucleic acids. The fraction of fetal nucleic acids can be used in determining the presence or absence of fetal aneuploidy.

Abstract: Provided herein are compositions that include nucleic acid fragments produced from double-stranded template nucleic acids, such as cell free DNA. The compositions can be used as positive or negative controls for quality of library preparation methods, calibration of an instrument such as a sequencing instrument, and/or a validation for a nucleic acid sequencing test. Also provided are methods for making the nucleic acid fragments.

Abstract: Provided herein are compositions that include nucleic acid fragments produced from double-stranded template nucleic acids, such as cell free DNA. The compositions can be used as positive or negative controls for quality of library preparation methods, calibration of an instrument such as a sequencing instrument, and/or a validation for a nucleic acid sequencing test. Also provided are methods for making the nucleic acid fragments.

Abstract: The invention provides compositions and methods for determining the fraction of fetal nucleic acids in a maternal sample comprising a mixture of fetal and maternal nucleic acids. The fraction of fetal nucleic acids can be used in determining the presence or absence of fetal aneuploidy.

Abstract: The examples described herein provide for a Secondary Base Station (SeNB) Change procedure in a system configured to provide Dual Connectivity, where the SeNB Change procedure does not include the RACH procedure. As part of the SeNB Change procedure, a UE device generates a request that the Target Secondary base station (Target SeNB) is to send a Media Access Control (MAC) message to the UE device. In some examples, the request can be configured to specify a particular MAC Control Element that the Target SeNB should send in response to receiving the request. Upon receipt of the request, the Target SeNB transmits the requested MAC message to the UE device, along with TA information, if required. The UE device determines when the SeNB Change procedure has been completed, based at least partially on when the requested MAC message is received from the Target SeNB.

Abstract: The invention provides methods for determining aneuploidy and/or fetal fraction in maternal samples comprising fotal and matemal cfDNA by massively parallel sequencing. The method comprises a novel protocol for prepering sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

Abstract: The invention provides compositions and methods for simultaneously determining the presence or absence of fetal aneuploidy and the relative amount of fetal nucleic acids in a sample obtained from a pregnant female. The method encompasses the use of sequencing technologies and exploits the occurrence of polymorphisms to provide a streamlined noninvasive process applicable to the practice of prenatal diagnostics.

Abstract: The invention provides methods for determining aneuploidy and/or fetal fraction in maternal samples comprising fetal and maternal cfDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

Abstract: Systems and methods for facilitating the mitigation of interference in the uplink of a small cell caused by macrocell user equipment in the case where the macrocell cannot identify the interfering macrocell user equipment because the user equipment cannot detect and report the small cell's downlink due to the small cell's uplink/downlink coverage imbalance. In an embodiment, the small cell provides the macrocell with a notification of the interference, the configuration information about its Physical Random Access Channel (PRACH), and a plurality of unique preambles and transmission times for non-contention-based transmissions on the small cell's PRACH. The macrocell orders each of one or a plurality of macrocell user equipment to transmit one of the unique preambles on the small cell's PRACH. The small cell reports to the macrocell the detected preamble transmissions, which allows the macrocell to identify interfering user equipment and perform corrective actions.

Abstract: The present invention relates to a method for verifying the integrity of biological source samples subjected to multistep bioassays that comprise massively parallel sequencing of the sample genomic nucleic acids. The integrity of the biological source samples is verified using unique marker nucleic acids that are combined with the biological source sample, and are sequenced concomitantly with the genomic nucleic acids of the biological source sample. The method provides verification of individual samples in single- and multiplex massively parallel sequencing assays.

Abstract: In order to perform a RACH-less handover from a source base station to a target base station, a UE device generates a request that the target base station is to send a Media Access Control (MAC) message to the UE device. The request can be sent with a Radio Resource Control (RRC) Connection Reconfiguration Complete message. Alternatively, an RRC message sent from a UE device functions as an implicit request that the target base station is to send a MAC message to the UE device. The request can also be configured to specify a particular MAC Control Element that the target base station should send. The target base station transmits the requested MAC message, along with TA information, if required. The UE device determines when the handover has been completed, based at least partially on when the requested MAC message is received from the target base station.

Abstract: The examples described herein provide for a Secondary Base Station (SeNB) Change procedure in a system configured to provide Dual Connectivity, where the SeNB Change procedure does not include the RACH procedure. As part of the SeNB Change procedure, a UE device generates a request that the Target Secondary base station (Target SeNB) is to send a Media Access Control (MAC) message to the UE device. In some examples, the request can be configured to specify a particular MAC Control Element that the Target SeNB should send in response to receiving the request. Upon receipt of the request, the Target SeNB transmits the requested MAC message to the UE device, along with TA information, if required. The UE device determines when the SeNB Change procedure has been completed, based at least partially on when the requested MAC message is received from the Target SeNB.

Abstract: Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs known or suspected to be associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter. In some implementations, information from fragments of different sizes are used to evaluate copy number variations. In some implementations, one or more t-statistics obtained from coverage information of the sequence of interest is used to evaluate copy number variations. In some implementations, one or more fetal fraction estimates are combined with one or more t-statistics to determine copy number variations.

Abstract: The examples described herein provide for a Secondary Base Station (SeNB) Change procedure in a system configured to provide Dual Connectivity, where the SeNB Change procedure does not include the RACH procedure. As part of the SeNB Change procedure, a UE device generates a request that the Target Secondary base station (Target SeNB) is to send a Media Access Control (MAC) message to the UE device. In some examples, the request can be configured to specify a particular MAC Control Element that the Target SeNB should send in response to receiving the request. Upon receipt of the request, the Target SeNB transmits the requested MAC message to the UE device, along with TA information, if required. The UE device determines when the SeNB Change procedure has been completed, based at least partially on when the requested MAC message is received from the Target SeNB.

Abstract: A UE is configured to perform Radio Link Monitoring (RLM) with a first Coverage Enhancement (CE) configuration that provides a first CE level. The first RLM configuration associated with the first CE configuration has a first radio-link-quality-improving threshold value that corresponds with a third distance from a base station that is closer to the base station than a second distance associated with an in-sync radio link quality threshold value associated with a first RLM configuration. The first RLM configuration also has a first radio-link-quality-improving-cancellation threshold value that corresponds with a fourth distance from the base station that is located farther from the base station than the third distance and closer to the base station than the first distance. If conditions are satisfied, the base station reconfigures the UE with a second RLM configuration and a second CE configuration having a second CE level lower than the first CE level.

Abstract: Systems and methods for facilitating the mitigation of interference in the uplink of a small cell caused by macrocell user equipment in the case where the macrocell cannot identify the interfering macrocell user equipment because the user equipment cannot detect and report the small cell's downlink due to the small cell's uplink/downlink coverage imbalance. In an embodiment, the small cell provides the macrocell with a notification of the interference, the configuration information about its Physical Random Access Channel (PRACH), and a plurality of unique preambles and transmission times for non-contention-based transmissions on the small cell's PRACH. The macrocell orders each of one or a plurality of macrocell user equipment to transmit one of the unique preambles on the small cell's PRACH. The small cell reports to the macrocell the detected preamble transmissions, which allows the macrocell to identify interfering user equipment and perform corrective actions.

Abstract: The examples described herein provide for a Secondary Base Station (SeNB) Change procedure in a system configured to provide Dual Connectivity, where the SeNB Change procedure does not include the RACH procedure. As part of the SeNB Change procedure, a UE device generates a request that the Target Secondary base station (Target SeNB) is to send a Media Access Control (MAC) message to the UE device. In some examples, the request can be configured to specify a particular MAC Control Element that the Target SeNB should send in response to receiving the request. Upon receipt of the request, the Target SeNB transmits the requested MAC message to the UE device, along with TA information, if required. The UE device determines when the SeNB Change procedure has been completed, based at least partially on when the requested MAC message is received from the Target SeNB.

Abstract: Systems and methods for facilitating the mitigation of interference in the uplink of a small cell caused by macrocell user equipment in the case where the macrocell cannot identify the interfering macrocell user equipment because the user equipment cannot detect and report the small cell's downlink due to the small cell's uplink/downlink coverage imbalance. In an embodiment, the small cell provides the macrocell with a notification of the interference, the configuration information about its Physical Random Access Channel (PRACH), and a plurality of unique preambles and transmission times for non-contention-based transmissions on the small cell's PRACH. The macrocell orders each of one or a plurality of macrocell user equipment to transmit one of the unique preambles on the small cell's PRACH. The small cell reports to the macrocell the detected preamble transmissions, which allows the macrocell to identify interfering user equipment and perform corrective actions.

Abstract: Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs known or suspected to be associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter. In some implementations, information from fragments of different sizes are used to evaluate copy number variations. In some implementations, one or more t-statistics obtained from coverage information of the sequence of interest is used to evaluate copy number variations. In some implementations, one or more fetal fraction estimates are combined with one or more t-statistics to determine copy number variations.

Abstract: The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the present method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.