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    Medical Genomics

    Genomics is a branch of science focusing on understanding the function and interaction of genes. Medical genomics is an emerging practice in the medical field where genetic information is applied to medical practice. Information obtained from evaluating a patient's genetic makeup can be used for diagnostic purposes or for determining the best therapeutic regimen for a patient.

    Webinars

    • MAY 14, 2015 | 12:00 PM
      Make your clinical sequencing count: technical and content decisions for improved disease targeted panels
      Make your clinical sequencing count: technical and content decisions...
      With current NGS platforms, the boundaries of variant detection and gene content for genetic disease panels has been vastly expanded leading to increases in detection rates. However these pla...
      Speaker: Sami Amr, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      3
      MAY 14, 2015 | 6:00 AM
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Next-generation sequencing for BRCA1 and BRCA2 mutation testing
      Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Genetics and Genomics Virtual Event Series 2015
      3
      MAY 13, 2015 | 3:00 PM
      Using the network architecture of eQTLs to understand complex traits
      Using the network architecture of eQTLs to understand complex...
      Genome Wide Association Studies (GWAS) and eQTL analyses are producing huge numbers of associations and show no signs of slowing. There are now more than 8,500 SNPs associated with more than...
      Speaker: John Platig, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      2
      MAY 13, 2015 | 3:00 PM
      Journeys through Space and Time: Ultra High-Resolution Expression Profiling of Long Noncoding RNAs
      Journeys through Space and Time: Ultra High-Resolution Expression...
      Long noncoding RNAs (lncRNAs) are increasingly recognized as having key regulatory roles in development and disease. However, these regulatory molecules often have short half lives and are ex...
      Speaker: Marcel Dinger, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      0
      MAY 13, 2015 | 10:30 AM
      Statistical methods for bulk and single-cell RNA-seq experiments
      Statistical methods for bulk and single-cell RNA-seq experiments
      I will discuss recent statistical methods for identifying differentially expressed genes in static and time course bulk RNA-seq experiments. I will also provide an overview of the opportunit...
      Speaker: Christina Kendziorski, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4 1
      OCT 30, 2014 | 10:30 AM
      Development of molecularly targeted imaging agents and identification of novel targets in cancer
      Development of molecularly targeted imaging agents and identification...
      The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
      Speaker: Kimberly Kelly , PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 6:00 AM
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
      Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
      When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
      Speaker: Kristin Landis-Piwowar, PhD, MLS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      8
      OCT 29, 2014 | 7:30 AM
      Antibody-based Proteomics: Fast-Tracking Molecular Diagnostics and Target Discovery in Oncology
      Antibody-based Proteomics: Fast-Tracking Molecular Diagnostics...
      The effective implementation of personalised cancer therapeutic regimens depends on the successful identification and translation of informative biomarkers to aid clinical decision-making. An...
      Speaker: Darran O'Connor, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      6
      OCT 29, 2014 | 7:30 AM
      Making Clinical NGS possible
      Making Clinical NGS possible
      Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      12
      SEP 24, 2014 | 2:00 PM
      Design of protein structures, functions and assemblies
      Design of protein structures, functions and assemblies
      I will describe recent advances in computational protein design which allow the generation of new protein structures and functions. I will describe the use of these methods to design ultra-s...
      Speaker: David Baker, PhD
      Presented at: Advances in Drug Discovery and Development
      32
      SEP 24, 2014 | 2:00 PM
      Targeting Lysine Acetylation in Cancer
      Targeting Lysine Acetylation in Cancer
      Master regulatory transcription factors localize to the genome in a manner influenced by chromatin accessibility and influencing global chromatin structure. With an interest in understanding...
      Speaker: Jay Bradner, MD
      Presented at: Advances in Drug Discovery and Development
      18
      AUG 21, 2014 | 11:15 AM
      Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges
      Keynote: Integration of Genetics and Genomics into Medical Practice:...
      Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
      Speaker: Bruce R. Korf, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      76
      AUG 21, 2014 | 10:45 AM
      The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine
      The Role of Genetic Counselors in the Implementation of Personalized...
      For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the...
      Speaker: Colleen Campbell, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      128
      AUG 21, 2014 | 9:45 AM
      Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
      Pathway based analyses for genetic susceptibility to cancer and...
      In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      62
      AUG 21, 2014 | 9:45 AM
      Shotgun sequencing enables non-invasive monitoring of infection and rejection in transplantation
      Shotgun sequencing enables non-invasive monitoring of infection...
      Accurate and timely diagnosis of rejection and infection is essential for long-term survival of solid-organ transplant recipients. We evaluated the performance a novel test to monitor rejecti...
      Speaker: Iwijn De Vlaminck, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      64
      AUG 21, 2014 | 8:45 AM
      Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
      Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical...
      Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
      Speaker: Jimmy Lin, MD, PhD, MHS
      Presented at: Genetics and Genomics Virtual Event Series 2014
      122
      AUG 21, 2014 | 8:45 AM
      From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study
      From Genetics to Genetic Medicine: Gene Therapy for vision restoration...
      Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
      Speaker: Luk H Vandenberghe, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      0
      AUG 21, 2014 | 8:45 AM
      Genome and exome sequencing in a clinical laboratory
      Genome and exome sequencing in a clinical laboratory
      With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
      Speaker: Matthew Lebo, PhD, FACMG
      Presented at: Genetics and Genomics Virtual Event Series 2014
      30
      AUG 21, 2014 | 7:30 AM
      Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing
      Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing
      ...
      Speaker: Robert Nussbaum, MD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      48
      AUG 21, 2014 | 6:45 AM
      Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
      Practical Considerations for the Clinical Interpretation of Germline...
      The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
      Speaker: Heather McLaughlin, PhD, MB(ASCP)CM
      Presented at: Genetics and Genomics Virtual Event Series 2014
      68
      AUG 20, 2014 | 10:45 AM
      OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
      OncoScan Assay for copy number from FFPE. Publications & cases...
      A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
      Speaker: Padma Sundar, MBA, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2014
      14
      AUG 20, 2014 | 8:45 AM
      Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic
      Novel gene chip technologies and NGS sequencing for personalized...
      The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
      Speaker: Dani Bercovich, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      12
      AUG 20, 2014 | 8:30 AM
      Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)
      Actionable mutation detection with multiplex pcr-based targeted...
      Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
      Speaker: Vikram Devgan, PhD, MBA
      Presented at: Genetics and Genomics Virtual Event Series 2014
      16
      AUG 20, 2014 | 8:00 AM
      Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
      Exploring Complex Structural Genomic Variation using Next-Gen...
      Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
      Speaker: Ryan E. Mills, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      12
    MAY 14, 2015 | 12:00 PM
    Make your clinical sequencing count: technical and content decisions for improved disease targeted panels
    Make your clinical sequencing count: technical and content decisions...
    With current NGS platforms, the boundaries of variant detection and gene content for genetic disease panels has been vastly expanded leading to increases in detection rates. However these pla...
    Speaker: Sami Amr, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    3
    MAY 14, 2015 | 6:00 AM
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Next-generation sequencing for BRCA1 and BRCA2 mutation testing
    Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Genetics and Genomics Virtual Event Series 2015
    3
    MAY 13, 2015 | 3:00 PM
    Using the network architecture of eQTLs to understand complex traits
    Using the network architecture of eQTLs to understand complex...
    Genome Wide Association Studies (GWAS) and eQTL analyses are producing huge numbers of associations and show no signs of slowing. There are now more than 8,500 SNPs associated with more than...
    Speaker: John Platig, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    2
    MAY 13, 2015 | 3:00 PM
    Journeys through Space and Time: Ultra High-Resolution Expression Profiling of Long Noncoding RNAs
    Journeys through Space and Time: Ultra High-Resolution Expression...
    Long noncoding RNAs (lncRNAs) are increasingly recognized as having key regulatory roles in development and disease. However, these regulatory molecules often have short half lives and are ex...
    Speaker: Marcel Dinger, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    0
    MAY 13, 2015 | 10:30 AM
    Statistical methods for bulk and single-cell RNA-seq experiments
    Statistical methods for bulk and single-cell RNA-seq experiments
    I will discuss recent statistical methods for identifying differentially expressed genes in static and time course bulk RNA-seq experiments. I will also provide an overview of the opportunit...
    Speaker: Christina Kendziorski, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4 1
     
     
  • OCT 30, 2014 | 10:30 AM
    Development of molecularly targeted imaging agents and identification of novel targets in cancer
    Development of molecularly targeted imaging agents and identification...
    The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
    Speaker: Kimberly Kelly , PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 6:00 AM
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative Neoplasms
    Epigenetic Dysregulation in the Pathogenesis of Myeloproliferative...
    When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
    Speaker: Kristin Landis-Piwowar, PhD, MLS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    8
    OCT 29, 2014 | 7:30 AM
    Antibody-based Proteomics: Fast-Tracking Molecular Diagnostics and Target Discovery in Oncology
    Antibody-based Proteomics: Fast-Tracking Molecular Diagnostics...
    The effective implementation of personalised cancer therapeutic regimens depends on the successful identification and translation of informative biomarkers to aid clinical decision-making. An...
    Speaker: Darran O'Connor, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    6
    OCT 29, 2014 | 7:30 AM
    Making Clinical NGS possible
    Making Clinical NGS possible
    Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    12
    SEP 24, 2014 | 2:00 PM
    Design of protein structures, functions and assemblies
    Design of protein structures, functions and assemblies
    I will describe recent advances in computational protein design which allow the generation of new protein structures and functions. I will describe the use of these methods to design ultra-s...
    Speaker: David Baker, PhD
    Presented at: Advances in Drug Discovery and Development
    32
     
     
  • SEP 24, 2014 | 2:00 PM
    Targeting Lysine Acetylation in Cancer
    Targeting Lysine Acetylation in Cancer
    Master regulatory transcription factors localize to the genome in a manner influenced by chromatin accessibility and influencing global chromatin structure. With an interest in understanding...
    Speaker: Jay Bradner, MD
    Presented at: Advances in Drug Discovery and Development
    18
    AUG 21, 2014 | 11:15 AM
    Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges
    Keynote: Integration of Genetics and Genomics into Medical Practice:...
    Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
    Speaker: Bruce R. Korf, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    76
    AUG 21, 2014 | 10:45 AM
    The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine
    The Role of Genetic Counselors in the Implementation of Personalized...
    For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the...
    Speaker: Colleen Campbell, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    128
    AUG 21, 2014 | 9:45 AM
    Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
    Pathway based analyses for genetic susceptibility to cancer and...
    In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    62
    AUG 21, 2014 | 9:45 AM
    Shotgun sequencing enables non-invasive monitoring of infection and rejection in transplantation
    Shotgun sequencing enables non-invasive monitoring of infection...
    Accurate and timely diagnosis of rejection and infection is essential for long-term survival of solid-organ transplant recipients. We evaluated the performance a novel test to monitor rejecti...
    Speaker: Iwijn De Vlaminck, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    64
     
     
  • AUG 21, 2014 | 8:45 AM
    Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
    Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical...
    Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
    Speaker: Jimmy Lin, MD, PhD, MHS
    Presented at: Genetics and Genomics Virtual Event Series 2014
    122
    AUG 21, 2014 | 8:45 AM
    From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study
    From Genetics to Genetic Medicine: Gene Therapy for vision restoration...
    Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
    Speaker: Luk H Vandenberghe, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    0
    AUG 21, 2014 | 8:45 AM
    Genome and exome sequencing in a clinical laboratory
    Genome and exome sequencing in a clinical laboratory
    With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
    Speaker: Matthew Lebo, PhD, FACMG
    Presented at: Genetics and Genomics Virtual Event Series 2014
    30
    AUG 21, 2014 | 7:30 AM
    Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing
    Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing
    ...
    Speaker: Robert Nussbaum, MD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    48
    AUG 21, 2014 | 6:45 AM
    Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
    Practical Considerations for the Clinical Interpretation of Germline...
    The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
    Speaker: Heather McLaughlin, PhD, MB(ASCP)CM
    Presented at: Genetics and Genomics Virtual Event Series 2014
    68
     
     
  • AUG 20, 2014 | 10:45 AM
    OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
    OncoScan Assay for copy number from FFPE. Publications & cases...
    A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
    Speaker: Padma Sundar, MBA, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2014
    14
    AUG 20, 2014 | 8:45 AM
    Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic
    Novel gene chip technologies and NGS sequencing for personalized...
    The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
    Speaker: Dani Bercovich, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    12
    AUG 20, 2014 | 8:30 AM
    Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)
    Actionable mutation detection with multiplex pcr-based targeted...
    Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
    Speaker: Vikram Devgan, PhD, MBA
    Presented at: Genetics and Genomics Virtual Event Series 2014
    16
    AUG 20, 2014 | 8:00 AM
    Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
    Exploring Complex Structural Genomic Variation using Next-Gen...
    Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
    Speaker: Ryan E. Mills, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    12
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