Patents Assigned to SIGNATURE GENOMICS LABORATORY
  • Patent number: 8731956
    Abstract: Techniques for allowing doctors and clinicians to upload genetic data associated with patients for comparison with previously-uploaded genetic data associated with other patients are described herein. These techniques may also allow doctors and clinicians to create notations associated with uploaded patient data. Both the previously-uploaded data as well as the created notations may be used by doctors and clinicians in attempting to diagnosis patients. That is, these techniques allow previously-acquired knowledge to be widely shared for the future benefit in attempting to detect genetic syndromes.
    Type: Grant
    Filed: November 5, 2008
    Date of Patent: May 20, 2014
    Assignee: Signature Genomic Laboratories
    Inventors: Bassem A. Bejjani, Lisa G. Shaffer, Blake Ballif, Brice Tebbs, Kyle Sundin
  • Publication number: 20110086772
    Abstract: Multiplex (+/?) stranded analyses, such as array comparative genomic hybridization (aCGH), are provided for detecting chromosomal rearrangements associated with cancer and other diseases. For example, an illustrative multiplex array for CGH includes discrete plus (+) strand and minus (?) strand DNA probes, complementary to each other but separable on the CGH array. The minus (?) strand DNA probes recover diagnostic information lost to conventional microarrays, since many genes transcribe from the minus (?) strand. In an illustrative system, patient and control DNA samples are prepared for CGH by amplification and labeling using comprehensive primers that generate both plus (+) strands and minus (?) strands of DNA in the samples. The breakpoints of a translocated chromosome may be detected on a multiplex microarray by DNA probes of one polarity, while DNA copy number changes associated with the translocation region may be detected by corresponding DNA probes of the complementary polarity.
    Type: Application
    Filed: September 27, 2010
    Publication date: April 14, 2011
    Applicant: Signature Genomics Laboratories LLC
    Inventors: Lisa McDaniel, Blake Ballif, Roger Schultz, Brice Tebbs, Bassem Bejjani, Lisa Shaffer
  • Patent number: 7910353
    Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.
    Type: Grant
    Filed: February 11, 2005
    Date of Patent: March 22, 2011
    Assignee: Signature Genomic Laboratories
    Inventors: Lisa G. Shaffer, Bassem A. Bejjani
  • Publication number: 20100248984
    Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.
    Type: Application
    Filed: June 10, 2010
    Publication date: September 30, 2010
    Applicant: SIGNATURE GENOMICS LABORATORY
    Inventors: Lisa G. Shaffer, Bassem A. Bejjani
  • Publication number: 20100248985
    Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.
    Type: Application
    Filed: June 10, 2010
    Publication date: September 30, 2010
    Applicant: SIGNATURE GENOMICS LABORATORY LLC
    Inventors: Lisa G. Shaffer, Bassem A. Bejjani
  • Publication number: 20100248983
    Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.
    Type: Application
    Filed: June 10, 2010
    Publication date: September 30, 2010
    Applicant: SIGNATURE GENOMICS LABORATORY
    Inventors: Lisa G. Shaffer, Bassem A. Bejjani
  • Publication number: 20100248992
    Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.
    Type: Application
    Filed: June 10, 2010
    Publication date: September 30, 2010
    Applicant: SIGNATURE GENOMICS LABORATORY LLC
    Inventors: Lisa G. Shaffer, Bassem A. Bejjani
  • Publication number: 20090075835
    Abstract: Methods for diagnosing the presence or absence of a genetic disorder in a patient are provided, wherein the genetic disorder is associated with a chromosomal abnormality at 1q41q42 and/or 16p11.2p12.2, and wherein the genetic disorder is not Fryns syndrome or congenital diaphragmatic hernia (CDH). Materials, such as microarrays for use in microarray CGH, and kits for use in such methods are also provided.
    Type: Application
    Filed: September 16, 2008
    Publication date: March 19, 2009
    Applicant: SIGNATURE GENOMICS LABORATORIES, LLC
    Inventors: Bassem A. Bejjani, Blake Charles Ballif, Lisa G. Shaffer