The Experts below are selected from a list of 117 Experts worldwide ranked by ideXlab platform

Gholson J. Lyon - One of the best experts on this subject based on the ideXlab platform.

Jason Orawe - One of the best experts on this subject based on the ideXlab platform.

  • integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    PeerJ, 2013
    Co-Authors: Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Reid Robison, Han Fang, Jason Orawe, Martin G. Reese
    Abstract:

    Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human biological systems on the individual level. Large quantities of biomedical data are now being generated and archived in many separate research and clinical activities, but there exists a paucity of studies that integrate the areas of clinical neuropsychiatry, Personal genomics and brain-machine interfaces. Methods. A single Person with severe mental Illness was implanted with the Medtronic Reclaim Deep Brain Stimulation (DBS) Therapy device for Obsessive Compulsive Disorder (OCD), targeting his nucleus accumbens/anterior limb of the internal capsule. Programming of the device and psychiatric assessments occurred in an outpatient setting for over two years. His genome was sequenced and variants were detected in the Illumina Whole Genome Sequencing Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Results. We report here the detailed phenotypic characterization, clinical-grade whole genome sequencing (WGS), and two-year outcome of a man with severe OCD treated with DBS. Since implantation, this man has reported steady improvement, highlighted by a steady decline in his Yale-Brown Obsessive Compulsive Scale (YBOCS) score from 38 to a score of 25. A rechargeable Activa RC neurostimulator battery has been of major benefit in terms of facilitating a degree of stability and control over the stimulation. His psychiatric symptoms reliably worsen within hours of the battery becoming depleted, thus providing confirmatory evidence for the eYcacy of DBS for OCD in this Person. WGS revealed that he is a heterozygote for the p.Val66Met variant in BDNF, encoding a member of the nerve growth factor family, and which has been found to predispose carriers to various psychiatric Illnesses. He carries the p.Glu429Ala allele in methylenetetrahydrofolate reductase (MTHFR) and the p.Asp7Asn allele in ChAT, encoding choline O-acetyltransferase, with both alleles having been shown to confer an elevated susceptibility to psychoses. We have found thousands of other variants in his genome, including pharmacogenetic and

  • supplemental file 12 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    A GVFclin file of the variants that were de-tected and validated by the Illumina CLIA whole genome sequencing and bioinformatics pipeline. Sequence variants contained within the GVFclin file format are represented in a way that conforms to the existing electronic medical health standards as de-fined by the interna-tional standards consortium: Health Level 7. The GVFclin file format extends the GVF format by including clinical variant attributes, which are HL7 compatible.

  • supplemental file 10 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    57 genes recommended by the ACMG as candidates for returning results were analyzed and annotated by the Omicia Opal system. Only two variants, one in CACNA1S and one in MYLK, were interpreted as being of putative interest but not rising to the level of “pathogenicity”.

  • supplemental figure 2 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Illumina CLIA Whole genome sequencing data summarized in the form of a Circos plot. We show here a sum-mary of the genomic coordinates corresponding to the 344 genes that were clinically evaluated by the Illumina CLIA WGS pipeline, the frequency of IGN validated SNVs across the genome (plotted in red) and a summary of highly confident copy number variants (CNVs) that were simultaneously detected by the Estimation by Read Depth with SNVs (ERDS) and Copy Number Analysis Method (CNAM) detec-tion methods (plotted in black). Duplications and deletions are depicted as elevations and declinations, respectively.

  • supplemental figure 1 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Data statistics and SNP characteristics for the Illumina CLIA WGS pipeline. WGS was performed using the Illumina CLIA WGS pipeline. We report the volume of data, the quality of the data as well as whole genome SNP characteristics and more general characteristics of SNVs reported by the Illumina CLIA WGS pipeline, including: the total number of SNVs, the total number of SNVs that are within genes, coding regions, UTRs, splice site regions as well as the number of SNVs that were stop gained, stop lost, non-synonymous, synonymous and mature mRNA.

Martin G. Reese - One of the best experts on this subject based on the ideXlab platform.

  • integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    PeerJ, 2013
    Co-Authors: Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Reid Robison, Han Fang, Jason Orawe, Martin G. Reese
    Abstract:

    Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human biological systems on the individual level. Large quantities of biomedical data are now being generated and archived in many separate research and clinical activities, but there exists a paucity of studies that integrate the areas of clinical neuropsychiatry, Personal genomics and brain-machine interfaces. Methods. A single Person with severe mental Illness was implanted with the Medtronic Reclaim Deep Brain Stimulation (DBS) Therapy device for Obsessive Compulsive Disorder (OCD), targeting his nucleus accumbens/anterior limb of the internal capsule. Programming of the device and psychiatric assessments occurred in an outpatient setting for over two years. His genome was sequenced and variants were detected in the Illumina Whole Genome Sequencing Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Results. We report here the detailed phenotypic characterization, clinical-grade whole genome sequencing (WGS), and two-year outcome of a man with severe OCD treated with DBS. Since implantation, this man has reported steady improvement, highlighted by a steady decline in his Yale-Brown Obsessive Compulsive Scale (YBOCS) score from 38 to a score of 25. A rechargeable Activa RC neurostimulator battery has been of major benefit in terms of facilitating a degree of stability and control over the stimulation. His psychiatric symptoms reliably worsen within hours of the battery becoming depleted, thus providing confirmatory evidence for the eYcacy of DBS for OCD in this Person. WGS revealed that he is a heterozygote for the p.Val66Met variant in BDNF, encoding a member of the nerve growth factor family, and which has been found to predispose carriers to various psychiatric Illnesses. He carries the p.Glu429Ala allele in methylenetetrahydrofolate reductase (MTHFR) and the p.Asp7Asn allele in ChAT, encoding choline O-acetyltransferase, with both alleles having been shown to confer an elevated susceptibility to psychoses. We have found thousands of other variants in his genome, including pharmacogenetic and

  • supplemental file 12 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    A GVFclin file of the variants that were de-tected and validated by the Illumina CLIA whole genome sequencing and bioinformatics pipeline. Sequence variants contained within the GVFclin file format are represented in a way that conforms to the existing electronic medical health standards as de-fined by the interna-tional standards consortium: Health Level 7. The GVFclin file format extends the GVF format by including clinical variant attributes, which are HL7 compatible.

  • supplemental file 10 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    57 genes recommended by the ACMG as candidates for returning results were analyzed and annotated by the Omicia Opal system. Only two variants, one in CACNA1S and one in MYLK, were interpreted as being of putative interest but not rising to the level of “pathogenicity”.

  • supplemental figure 2 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Illumina CLIA Whole genome sequencing data summarized in the form of a Circos plot. We show here a sum-mary of the genomic coordinates corresponding to the 344 genes that were clinically evaluated by the Illumina CLIA WGS pipeline, the frequency of IGN validated SNVs across the genome (plotted in red) and a summary of highly confident copy number variants (CNVs) that were simultaneously detected by the Estimation by Read Depth with SNVs (ERDS) and Copy Number Analysis Method (CNAM) detec-tion methods (plotted in black). Duplications and deletions are depicted as elevations and declinations, respectively.

  • supplemental figure 1 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Data statistics and SNP characteristics for the Illumina CLIA WGS pipeline. WGS was performed using the Illumina CLIA WGS pipeline. We report the volume of data, the quality of the data as well as whole genome SNP characteristics and more general characteristics of SNVs reported by the Illumina CLIA WGS pipeline, including: the total number of SNVs, the total number of SNVs that are within genes, coding regions, UTRs, splice site regions as well as the number of SNVs that were stop gained, stop lost, non-synonymous, synonymous and mature mRNA.

Han Fang - One of the best experts on this subject based on the ideXlab platform.

  • integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    PeerJ, 2013
    Co-Authors: Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Reid Robison, Han Fang, Jason Orawe, Martin G. Reese
    Abstract:

    Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human biological systems on the individual level. Large quantities of biomedical data are now being generated and archived in many separate research and clinical activities, but there exists a paucity of studies that integrate the areas of clinical neuropsychiatry, Personal genomics and brain-machine interfaces. Methods. A single Person with severe mental Illness was implanted with the Medtronic Reclaim Deep Brain Stimulation (DBS) Therapy device for Obsessive Compulsive Disorder (OCD), targeting his nucleus accumbens/anterior limb of the internal capsule. Programming of the device and psychiatric assessments occurred in an outpatient setting for over two years. His genome was sequenced and variants were detected in the Illumina Whole Genome Sequencing Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Results. We report here the detailed phenotypic characterization, clinical-grade whole genome sequencing (WGS), and two-year outcome of a man with severe OCD treated with DBS. Since implantation, this man has reported steady improvement, highlighted by a steady decline in his Yale-Brown Obsessive Compulsive Scale (YBOCS) score from 38 to a score of 25. A rechargeable Activa RC neurostimulator battery has been of major benefit in terms of facilitating a degree of stability and control over the stimulation. His psychiatric symptoms reliably worsen within hours of the battery becoming depleted, thus providing confirmatory evidence for the eYcacy of DBS for OCD in this Person. WGS revealed that he is a heterozygote for the p.Val66Met variant in BDNF, encoding a member of the nerve growth factor family, and which has been found to predispose carriers to various psychiatric Illnesses. He carries the p.Glu429Ala allele in methylenetetrahydrofolate reductase (MTHFR) and the p.Asp7Asn allele in ChAT, encoding choline O-acetyltransferase, with both alleles having been shown to confer an elevated susceptibility to psychoses. We have found thousands of other variants in his genome, including pharmacogenetic and

  • supplemental file 12 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    A GVFclin file of the variants that were de-tected and validated by the Illumina CLIA whole genome sequencing and bioinformatics pipeline. Sequence variants contained within the GVFclin file format are represented in a way that conforms to the existing electronic medical health standards as de-fined by the interna-tional standards consortium: Health Level 7. The GVFclin file format extends the GVF format by including clinical variant attributes, which are HL7 compatible.

  • supplemental file 10 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    57 genes recommended by the ACMG as candidates for returning results were analyzed and annotated by the Omicia Opal system. Only two variants, one in CACNA1S and one in MYLK, were interpreted as being of putative interest but not rising to the level of “pathogenicity”.

  • supplemental figure 2 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Illumina CLIA Whole genome sequencing data summarized in the form of a Circos plot. We show here a sum-mary of the genomic coordinates corresponding to the 344 genes that were clinically evaluated by the Illumina CLIA WGS pipeline, the frequency of IGN validated SNVs across the genome (plotted in red) and a summary of highly confident copy number variants (CNVs) that were simultaneously detected by the Estimation by Read Depth with SNVs (ERDS) and Copy Number Analysis Method (CNAM) detec-tion methods (plotted in black). Duplications and deletions are depicted as elevations and declinations, respectively.

  • supplemental figure 1 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Data statistics and SNP characteristics for the Illumina CLIA WGS pipeline. WGS was performed using the Illumina CLIA WGS pipeline. We report the volume of data, the quality of the data as well as whole genome SNP characteristics and more general characteristics of SNVs reported by the Illumina CLIA WGS pipeline, including: the total number of SNVs, the total number of SNVs that are within genes, coding regions, UTRs, splice site regions as well as the number of SNVs that were stop gained, stop lost, non-synonymous, synonymous and mature mRNA.

Shawn Rynearson - One of the best experts on this subject based on the ideXlab platform.

  • integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    PeerJ, 2013
    Co-Authors: Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Reid Robison, Han Fang, Jason Orawe, Martin G. Reese
    Abstract:

    Background. In recent years, there has been an explosion in the number of technical and medical diagnostic platforms being developed. This has greatly improved our ability to more accurately, and more comprehensively, explore and characterize human biological systems on the individual level. Large quantities of biomedical data are now being generated and archived in many separate research and clinical activities, but there exists a paucity of studies that integrate the areas of clinical neuropsychiatry, Personal genomics and brain-machine interfaces. Methods. A single Person with severe mental Illness was implanted with the Medtronic Reclaim Deep Brain Stimulation (DBS) Therapy device for Obsessive Compulsive Disorder (OCD), targeting his nucleus accumbens/anterior limb of the internal capsule. Programming of the device and psychiatric assessments occurred in an outpatient setting for over two years. His genome was sequenced and variants were detected in the Illumina Whole Genome Sequencing Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Results. We report here the detailed phenotypic characterization, clinical-grade whole genome sequencing (WGS), and two-year outcome of a man with severe OCD treated with DBS. Since implantation, this man has reported steady improvement, highlighted by a steady decline in his Yale-Brown Obsessive Compulsive Scale (YBOCS) score from 38 to a score of 25. A rechargeable Activa RC neurostimulator battery has been of major benefit in terms of facilitating a degree of stability and control over the stimulation. His psychiatric symptoms reliably worsen within hours of the battery becoming depleted, thus providing confirmatory evidence for the eYcacy of DBS for OCD in this Person. WGS revealed that he is a heterozygote for the p.Val66Met variant in BDNF, encoding a member of the nerve growth factor family, and which has been found to predispose carriers to various psychiatric Illnesses. He carries the p.Glu429Ala allele in methylenetetrahydrofolate reductase (MTHFR) and the p.Asp7Asn allele in ChAT, encoding choline O-acetyltransferase, with both alleles having been shown to confer an elevated susceptibility to psychoses. We have found thousands of other variants in his genome, including pharmacogenetic and

  • supplemental file 12 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    A GVFclin file of the variants that were de-tected and validated by the Illumina CLIA whole genome sequencing and bioinformatics pipeline. Sequence variants contained within the GVFclin file format are represented in a way that conforms to the existing electronic medical health standards as de-fined by the interna-tional standards consortium: Health Level 7. The GVFclin file format extends the GVF format by including clinical variant attributes, which are HL7 compatible.

  • supplemental file 10 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    57 genes recommended by the ACMG as candidates for returning results were analyzed and annotated by the Omicia Opal system. Only two variants, one in CACNA1S and one in MYLK, were interpreted as being of putative interest but not rising to the level of “pathogenicity”.

  • supplemental figure 2 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Illumina CLIA Whole genome sequencing data summarized in the form of a Circos plot. We show here a sum-mary of the genomic coordinates corresponding to the 344 genes that were clinically evaluated by the Illumina CLIA WGS pipeline, the frequency of IGN validated SNVs across the genome (plotted in red) and a summary of highly confident copy number variants (CNVs) that were simultaneously detected by the Estimation by Read Depth with SNVs (ERDS) and Copy Number Analysis Method (CNAM) detec-tion methods (plotted in black). Duplications and deletions are depicted as elevations and declinations, respectively.

  • supplemental figure 1 for integrating precision medicine in the study and clinical treatment of a severely Mentally Ill Person
    2013
    Co-Authors: Jason Orawe, Shawn Rynearson, Edward S. Kiruluta, Gerald Higgins, Martin G. Reese, Karen Eilbeck, Reid Robison, Han Fang, Gholson J. Lyon
    Abstract:

    Data statistics and SNP characteristics for the Illumina CLIA WGS pipeline. WGS was performed using the Illumina CLIA WGS pipeline. We report the volume of data, the quality of the data as well as whole genome SNP characteristics and more general characteristics of SNVs reported by the Illumina CLIA WGS pipeline, including: the total number of SNVs, the total number of SNVs that are within genes, coding regions, UTRs, splice site regions as well as the number of SNVs that were stop gained, stop lost, non-synonymous, synonymous and mature mRNA.