Patents by Inventor Sara Berthoumieux

Sara Berthoumieux has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).

  • Publication number: 20190112640
    Abstract: A molecular-combing, Genetic-Morse Code based method enabling the detection and high-resolution characterization of complex regions of genomic DNA, such as the SMA locus, with molecular combing. A method for the identification of biomarkers associated to the cis-duplication of SMN1 gene or segments of other complex parts of the genome. Biomarkers identified by this method which are composed of a sets of different colored probes, such as those disclosed for the SMA region.
    Type: Application
    Filed: October 13, 2017
    Publication date: April 18, 2019
    Applicant: GENOMIC VISION
    Inventors: Marjorie PIERRET, Sara BERTHOUMIEUX, Sebastien BARRADEAU, Aaron BENSIMON
  • Publication number: 20190073444
    Abstract: The present invention is related to a method of analyzing a set of sequences of target regions on a plurality of macromolecules to test so as to detect anomalies therein, each target region being associated with a tag and said macromolecules having underwent linearization according to a predetermined direction, wherein said method comprises performing by a processor (11) of equipment (10) the following steps: (a) Identifying said sequences of target regions from at least one sample image received from a scanner (2), said sample image depicting said macromolecules as curvilinear objects sensibly extending according to said predetermined direction; (b) Determining if there is at least one target region presenting a bimodal distribution of the lengths of said target region; (c) Determining if there is at least one recurrent breakpoint position in said sequences of target regions; If at least one target region presenting a bimodal distribution of length and/or at least one recurrent breakpoint position has been d
    Type: Application
    Filed: March 10, 2017
    Publication date: March 7, 2019
    Applicant: GENOMIC VISION
    Inventors: Sara BERTHOUMIEUX, Vincent GLAUDIN, Jun KOMATSU, Olivier LEVREY, Ivan KYRGYZOV, Frederic FER
  • Publication number: 20180150597
    Abstract: Methods including in-silico steps for design and synthesis of Genomic Morse Code (“GMC”) probes including design of combinations of polynucleotide sequences and labelling colors for analysis of large rearrangements in targeted genetic regions as well as allele characterization of complex regions and localization of events such as replication, DNA reparation or epigenetics in particular regions. Color-encoded sets of probes that produce characteristic or unique color patterns when painted on a target nucleic acid sequence. Methods for using color-encoded sets of probes.
    Type: Application
    Filed: November 29, 2017
    Publication date: May 31, 2018
    Applicant: Genomic Vision SA
    Inventors: Sara Berthoumieux, Yannick Fourne, Jun Komatsu, Frederic Fer, Aaron Bensimon