摘要:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which are received genomic sequence reads derived from a biological sample obtained from a user The platform also includes a bioinformatics processing pipeline including a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, a variant calling module operative to identify observed variants in the observed sequence data, and a variant refinement module for producing a set of refined variants associated with the user. A variant imputation module produces a set of imputed variants associated with the user, and a variant storage module disposed to receive a query from network infrastructure of a partner application provider and to provide selected ones of the refined or imputed variants in response to the query.
摘要:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a platform comprises a network interface, in communication with a sequencing laboratory, through which are received genomic sequence reads derived from a biological sample obtained from a user, and a bioinformatics processing pipeline. The pipeline includes a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, a variant calling module operative to identify observed variants in the observed sequence data, a genomic data storage containing at least the observed variants in the observed sequence data, and a variant storage module disposed to receive a query from network infrastructure of a partner application provider and to provide genomic information based on or derived from the observed variants in response to the query.
摘要:
Systems, platforms, methods and media for providing genomic services axe disclosed. In one example, a system for providing genomic services comprises genomic sequencing equipment configured to generate sequence reads based upon a biological sample obtained from a user, store the sequence reads in a FASTQ storage file, and communicate the FASTQ file electronically to a recipient. The system also includes a genomic services platform which includes a network interface through which the sequence reads are received, and a bioinformatics processing pipeline. The bioinformatics processing pipeline includes a read alignment module configured to generate observed sequence data, and a variant calling module is operative to identify observed variants in the observed sequence data. A variant storage module is disposed to receive a query from network infrastructure of a partner application provider and to provide selected ones of refined variants in response to a query.
摘要:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which genomic sequence reads derived from a biological sample obtained from a user are received. The platform also includes a bioinformatics processing pipeline that includes a read alignment module configured to receive a genomics file from genomic sequencing equipment and use data contained therein to generate observed sequence data by aligning the sequence reads relative to a reference sequence. A variant calling module identifies observed variants in the observed sequence data and stores the observed variants in a variant calling file. A variant refinement module produces genotype data including a set of refined variants associated with the user, and a variant imputation module produces a set of imputed variants associated with the user. The variant imputation module can separate the genotype data into high-quality and low-quality genotypes based on a genotype quality.
摘要:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which are received genomic sequence reads derived from a biological sample obtained from a user. The platform also includes a bioinformatics processing pipeline including a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, a variant calling module operative to identify observed variants in the observed sequence data, and a variant refinement module for producing genotype data including a set of refined variants associated with the user. A variant imputation module produces a set of imputed variants associated with the user, and is configured to receive, as input, at least some of the genotype data and separate the genotype data into high-quality and low-quality genotypes based on a genotype quality.
摘要:
Systems, platforms, methods and media for providing genomic services are disclosed. In one example, a genomic services platform comprises a network interface through which genomic sequence reads derived from a biological sample are received. The platform also includes a bioinformatics processing pipeline that comprises a read alignment module configured to generate observed sequence data by aligning the sequence reads relative to a reference sequence, a variant calling module operative to identify observed variants in the observed sequence data, and a variant refinement module for producing a set of refined variants associated with the biological sample. A variant imputation module produces a set of imputed variants associated with the user and a variant storage module, operating on a server-less framework, is disposed to receive a query from network infrastructure of a partner application provider and to provide selected ones of the refined or imputed variants m response to the query.
摘要:
Method and apparatus for image transmission using arithmetic coding, based on continuous error detection uses a controlled amount of added redundancy. A continuous error detection scheme is provided, wherein there is a trade-off between the amount of added redundancy and the time needed to detect an error once it occurs. Herein, there is no need for the cyclic redundancy check (CRC) to wait until an entire block of data has been received and processed before an error can be detected. The invention can be used to great advantage both in the automatic repeat request (ARQ) and other concatenated coding schemes. Errors in the received bit stream are detected by introducing added redundancy, e.g., a forbidden symbol, in the arithmetic coding operation. The forbidden symbol is never intended to be encoded. The redundancy error causes loss of synchronization, which is used to detect errors. If a forbidden symbol gets decoded, it means that an error has occurred. In this invention, there is direct control over the amount of redundancy added vs. the amount of time it takes to detect an error. For image compression systems, by using the invention and ARQ, only one device would suffice both for source compression and channel coding.
摘要:
In one embodiment, a method includes receiving at a network device, video from a first endpoint, analyzing the video received from the first endpoint, processing video received from a second endpoint based on the analyzed video to optimize bandwidth between the network device and the first endpoint, and transmitting the processed video to the first endpoint. An apparatus is also disclosed.
摘要:
In one embodiment, a method includes receiving at a network device, video from a first endpoint, analyzing the video received from the first endpoint, processing video received from a second endpoint based on the analyzed video to optimize bandwidth between the network device and the first endpoint, and transmitting the processed video to the first endpoint. An apparatus is also disclosed.
摘要:
In one embodiment, a method includes receiving at a multimedia transformation unit, media streams from a plurality of endpoints, transmitting audio components of the media streams to a multipoint conferencing unit, receiving an identifier from the multipoint conferencing unit identifying one of the media streams as an active speaker stream, processing at the multimedia transformation unit, a video component of the active speaker stream, and transmitting the active speaker stream to one or more of the endpoints without transmitting the video component to the multipoint conferencing unit. An apparatus is also disclosed.