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10 results about "Genome variation" patented technology
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GENOME VARIATIONS. Genome variations are differences in the sequence of DNA from one person to the next. Just as you can look at two people and tell that they are different, you could, with the proper chemicals and laboratory equipment, look at the genomes of two people and tell that they are different, too.
Methods and systems for performing genomic variant calls based on identified off-target sequence reads
PendingUS20260141981A1Microbiological testing/measurementMedical automated diagnosisData miningBioinformatics
Owner:FOUNDATION MEDICINE INC
A method and system for rapid screening analysis of homologous genes
PendingCN122117040Aimprove consistencygood reproducibilityData visualisationProteomicsGene screeningAnnotation
The application discloses a method and system for rapid screening and analysis of homologous genes, and relates to the technical field of biological information and molecular breeding. The method comprises the following steps: obtaining multi-source input files; the multi-source input files comprise a reference genome file, a sample genome file, a reference annotation file and a target gene list file; pre-processing the multi-source input files to obtain pre-processed multi-source input files; the pre-processing comprises standardization processing, integrity detection, format consistency detection, repeated record detection and sequence file information improvement; performing sequence alignment, variation site extraction and variation marking on the pre-processed multi-source input files to obtain gene screening analysis results; and performing visual processing and data management on the gene screening analysis results. The application can reduce manual intervention, improve the efficiency and consistency of data analysis, and realize rapid standardized processing and intuitive result display of genomic variation information.
Owner:HUAZHONG AGRI UNIV +2
Systems and methods for annotating biomolecule data
Systems, methods, software and computer-usable media for annotating biomolecule-related data are disclosed. In certain exemplified embodiments, the biomolecules can be nucleic acids and the data can be sequence-related data. In various embodiments, systems can include one or more public or private biological attributes (e.g., annotation information databases, data storage devices and systems, etc.) sources, one or more genomic features data sources (e.g., genomic variant tools, genomic variant databases, genomic variant data storage devices and systems, etc.), a computing device (e.g., workstation, server, personal computer, mobile device, etc.) hosting an annotations module and / or a reporting module, and a client terminal.
Owner:LIFE TECHNOLOGIES CORP
Consensus-based classification technique to determine genetically inferred ancestry from comprehensive genomic profiling of tumor DNA
The disclosure relates to comprehensive genomic profiling (CGP) and to consensus-based classification techniques for determining genetically inferred ancestry from CGP of tumor DNA. Aspects are directed towards accessing reference and subject sequencing files and identifying genomic variants using a hybrid variant tool. The reference variant file is consolidated into a datastore formatted file that is queried to perform joint variant calling to generate a final reference variant file. The final reference variant file and the subject variant file are merged. On the merged variant file, principal component (PC) analysis is performed, and the PCs are used by a first and second classification process to generate a first and second ancestry call. The merged variant file is input into a third classification process to generate a third ancestry call. A consensus genetically inferred ancestry (GIA) call is predicted based on the first, the second, and the third ancestry calls.
Owner:OMNISEQ INC
A bitmap index compression method for genomic variant data
The present application belongs to the field of information retrieval and big data analysis, and particularly relates to a bitmap index compression method for genomic variation data, comprising: splitting original genomic variation data sequences according to field attributes, and storing in a columnar database; establishing original bitmap indexes for genomic variation data in the columnar database; dividing the original bitmap indexes into several segments; using a run-length algorithm to compress and store the public part of the segmented bitmap data, and using an integer list or a bit sequence to compress and store the non-public part. The present application saves more storage space by merging public affixes in the bitmap sequence, improves the bit operation speed, and makes the bitmap index load into the memory faster.
Owner:CHONGQING UNIV OF POSTS & TELECOMM
A method for ssr molecular marker information based on high-throughput sequencing technology
This invention discloses a method for obtaining SSR molecular marker information based on high-throughput sequencing technology, belonging to the field of molecular biology. The method includes: selecting a reference genome in a genome database; collecting biological samples of the target species for high-throughput sequencing; obtaining raw sequencing data; analyzing the raw data to obtain a genome variation record file; performing a whole-genome scan of the reference genome; identifying and obtaining all SSR loci that meet the screening parameters; generating an analysis background file; performing joint analysis with the genome variation record files of each individual; extracting SSR loci information that have mutated relative to the reference genome in each individual; generating a cleaned SSR locus information file; constructing a whole-genome SSR molecular marker identification file; or performing joint analysis of multiple locus information files to generate population genetic data. This invention can provide efficient and highly adaptable core technical support for molecular genetic research and breeding applications in various species.
Owner:NANJING CHENGXI TECHNOLOGY CO LTD
A genomic infiltration identification method fusing parent-specific snp and population allele frequency
PendingCN122266472AHigh precisionImprove judgment accuracyData visualisationBiostatisticsAllele frequencyKaryotype
The application discloses a genome penetration identification method fusing parent-specific SNPs and population allele frequencies, and relates to the technical field of bioinformatics and data processing. The method is based on the whole genome variation data of a parent population with a known source, uses the difference in population allele frequencies to screen parent-specific diagnostic SNP sites, and constructs a diagnostic SNP library. For the whole genome variation data of a sample to be measured, parent sources are determined in a preset sliding window through a physical path and a statistical path. On this basis, the double-path determination results are fused according to the decision rules of physical priority and loss completion, and the final determination results of each sliding window are obtained. Then, through continuous window merging and chromosome physical coordinate mapping, a phase block list and a visual karyotype map are output. The method is beneficial to improving the accuracy and robustness of parent source determination of chromosome segments.
Owner:GUANGXI UNIV