Unified portal for regulatory and splicing elements for genome analysis
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a genome analysis and portal technology, applied in the field of genomic analysis, can solve the problems of lack of systematic approach to search, classify, identify, illustrate, and coding and non-coding portions of the genome and associated mutations, and little is known about other portions of the genom
Pending Publication Date: 2022-09-29
GENOME INT CORP
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However, little is known as to other portions of the genome that may not encode proteins, but may be linked to disease and other phenotypic traits yet to be discovered
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[0028]In the following detailed description, numerous specific details are set forth to provide a full understanding of the present disclosure. It will be apparent, however, to one ordinarily skilled in the art, that the embodiments of the present disclosure may be practiced without some of these specific details. In other instances, well-known structures and techniques have not been shown in detail so as not to obscure the disclosure.
[0029]The present disclosure is directed to a platform for the comprehensive analysis of gene regulation and splicing in genes within the human genome. The platform provides a basis for the analysis of regulatory and splicing elements in the human genome, their cryptic versions, and extensive details of the molecular processes that occur at every level of gene expression, transcription, splicing, and translation of every gene in the human genome. In some embodiments, the platform disclosed herein facilitates the analysis of mutations and aberrations in...
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Abstract
A method, including identifying, in a nucleotide string, at least two exons, at least one acceptor, at least one donor, and at least one intron between the at least two exons, is provided. The method includes identifying, in the nucleotide string, a cryptic splice site comprising a sequence of nucleotides based on a similarity score with at least one of the acceptor or the donor, and graphically marking, in a display for a user, the nucleotide string at a location indicative of an exon, an intron, a true splice site, and optionally a cryptic splice site when the similarity score is higher than a pre-selected threshold. A system and a non-transitory, computer-readable medium including instructions to cause the system to perform the method are also provided.
Description
CROSS-REFERENCE TO RELATED APPLICATIONS[0001]This application is a continuation of International Application No. PCT / US2021 / 047025, filed Aug. 20, 2021, entitled “A UNIFIED PORTAL FOR REGULATORY AND SPLICING ELEMENTS FOR GENOME ANALYSIS”, which claims priority under Article 8 of the PCT to U.S. Provisional Application No. 63 / 166,803, entitled “A UNIFIED PORTAL FOR REGULATORY AND SPLICING ELEMENTS FOR GENOME ANALYSIS,” to Sudar Senapathy, filed on Mar. 26, 2021, and to U.S. Provisional Application No. 63 / 166,829, entitled “A PRECISION MEDICINE PORTAL FOR HUMAN DISEASES,” to Periannan Senapathy, filed on Mar. 26, 2021, the contents of both applications incorporated herein by reference in their entirety, for all purposes.[0002]This application is related to International Application No. PCT / US2021 / 047027 filed Aug. 20, 2021, which claims the benefit of U.S. Provisional Patent Application No. 63 / 166,803, filed Mar. 26, 2021, and U.S. Provisional Patent Application No. 63 / 166,829, filed ...
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