摘要:
In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
摘要:
An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要:
An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要:
In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
摘要:
A method according to an embodiment of the present invention determines putative changes in splicing, mRNA structure, and protein synthesis. For each of these concepts, scoring algorithms are disclosed that can be used in a genome-wide scale. The described methods provide a pipeline that can be used to analyze the biological effects of SNPs generally, both synonymous and non-synonymous.
摘要:
The invention identifies genes whose expression is upregulated or downregulated following mechanical offloading in subjects with heart failure. The invention provides compositions comprising a targeting agent conjugated to a functional moiety, wherein the targeting agent selectively binds to a polypeptide encoded by one of these genes. The functional moiety can be an imaging agent, therapeutic agent, etc. The invention further provides methods for providing diagnostic or prognostic information related to heart failure involving detecting expression or activity of an expression product of one or more of the identified genes. The invention further provides diagnostic and therapeutic methods comprising detecting or administering an apelin peptide to a subject.
摘要:
The present invention provides a system and method for displaying ventricular timing events and for determining optimal ventricular pace timing based on ventricular synchrony and loading conditions in order to improve the hemodynamic performance of patients.
摘要:
The invention provides genes (DEA genes) that are differentially expressed in atherosclerotic lesions and polypeptides encoded by these genes. The invention provides compositions comprising a targeting agent conjugated to a functional moiety, wherein the targeting agent selectively binds to a polypeptide encoded by one a DEA gene. The functional moiety can be an imaging agent, therapeutic agent, etc. The invention further provides methods for providing diagnostic or prognostic information related to atherosclerosis involving detecting expression or activity of an expression product of one or more of the DEA genes. The invention further provides therapeutic methods comprising administering to a subject a composition comprising a targeting agent conjugated to a functional moiety that binds selectively binds to a polypeptide encoded by a DEA gene.
摘要:
Methods, systems and computer readable media for network-based identification of significant molecules, for which at least one biological network is provided to include significant molecules to be identified. A node in the network is identified. A member-specific sub-network containing nodes connected to the identified node is identified for L levels of nearest neighbors, wherein L is a positive integer, and a connectivity score is calculated for the molecule represented by the identified node based on significance scores of each node contained in the member-specific sub-network. These steps are repeated for other nodes in the network. Methods, systems and computer readable media for network-based identification of significant molecules, for which at least one biological network is provided to include significant molecules to be identified, a data set including data values characterizing molecules experimented on is provided, and an interesting list of molecules is provided as a subset of the molecules from the dataset, the interesting list including significance scores for the molecules in the list. Such identification includes identifying a node in the network; identifying a member-specific sub-network containing nodes connected to the identified node for L levels of nearest neighbors, wherein L is a positive integer; extracting the member-specific sub-network from the network; and repeating these steps for each of the other nodes in the network that corresponds to a molecule in the interesting list.