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  • Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

    Abstract Full Text
    free access
    JAMA. 2016; 316(7):734-742. doi: 10.1001/jama.2016.11139

    This study uses gene frequencies from an expanded carrier screening program of reproductive-aged adults of multiple racial backgrounds and ethnicities to estimate the rates of children identified as being at risk for severe genetic disease.

  • Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

    Abstract Full Text
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    JAMA. 2014; 312(18):1880-1887. doi: 10.1001/jama.2014.14604

    Lee and coauthors report on initial clinical indications for clinical exome sequencing referrals and molecular diagnostic rates for different indications and for different test types.

  • Clinical Interpretation and Implications of Whole-Genome Sequencing

    Abstract Full Text
    free access
    JAMA. 2014; 311(10):1035-1045. doi: 10.1001/jama.2014.1717

    Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.

  • JAMA March 12, 2014

    Figure 1: Overview of Whole-Genome Sequence Analysis Workflow for the Genomic Medicine Application Pilot Project (GMAPP)

    Rare genetic variants were defined as alleles with frequency <0.01 in an ethnically matched population genetic survey. Inherited disease risk candidate identification and genetic drug response prediction are outlined in the Supplement. Abbreviations: ACMG, American College of Medical Genetics and Genomics; GMAPP, Genomic Medicine Application Pilot Project; SNV, single nucleotide variant; SV, structural variant.
  • JAMA March 12, 2014

    Figure 3: Genotype Concordance Between Whole-Genome Sequencing Platforms in 12 Participants Sequenced in the Genomic Medicine Application Pilot Project

    A, Genotype concordance for all variant positions. B, Genotype concordance for variants in protein-coding regions. C, Genotype concordance for candidate inherited disease risk variants. Concordant refers to sequence variants with the same alleles and zygosity (ie, homozygous calls in both platforms) called by both platforms; discordant, refers to sequence variants called by both platforms but with different alleles or zygosity; and not called, sequence variants identified using the Illumina platform for which no variant genotype call was made by the Complete Genomics platform.
  • Quantitative Heredity

    Abstract Full Text
    JAMA. 2014; 311(8):866-866. doi: 10.1001/jama.2013.279355
  • JAMA April 10, 2013

    Figure 4: Example of Exome Sequencing to Identify Genetic Basis of an Undiagnosed Disorder in an Affected Child

    Exome sequencing is performed on exons—the protein encoding regions of genes—that are isolated by a process of DNA fragmentation and hybridization. Using next-generation sequencing, purified exons are sequenced and compared with a standard reference human genome sequence to identify variants. To determine inheritance of a possible genetic disorder, exome sequencing can be performed on an affected child and both parents. Analysis is limited to those variants that are not known to be benign and that have potential for a damaging effect on protein function. If inheritance is recessive (biallelic), each parent carries 1 of the damaging variants as a heterozygous carrier. If inheritance is dominant (monoallelic), either parent carries the variant and would be phenotypically affected unless the mutation is nonpenetrant. Alternatively, a dominant mutation may have arisen de novo in the child, in which case neither parent carries the variant.
  • JAMA November 21, 2012

    Figure: Sequencing Inches Closer to the Clinic: Neonatal, Intellectual Disorders Identified

    Genome sequencing may help physicians diagnose neonates with genetic disorders. Obtaining a rapid diagnosis for such disorders can mean the difference between life and death.
  • JAMA October 27, 2010

    Figure: State, Federal Efforts Under Way to Identify Children With “Bubble Boy Syndrome”

    A test for severe combined immunodeficiency has been added to a recommended panel of newborn screening tests for genetic disorders. The tests use a blood spot collected at birth.
  • King Tutankhamun, Modern Medical Science, and the Expanding Boundaries of Historical Inquiry

    Abstract Full Text
    JAMA. 2010; 303(7):667-668. doi: 10.1001/jama.2010.153
  • Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation

    Abstract Full Text
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    JAMA. 2009; 302(15):1681-1684. doi: 10.1001/jama.2009.1507
  • JAMA October 7, 2009

    Figure: Growing Calls in United States, Europe to Improve Regulation of Genetic Testing

    The number of molecular, biochemical, and cytogenetic tests available to detect genetic diseases has skyrocketed in recent years.
  • JAMA October 1, 2008

    Figure 1: Participant Flow for the Centers for Disease Control and Prevention Anthrax Vaccine Research Program Human Clinical Trial

    “Terminated injections” means that no more injections will be received by that participant. “Suspended injections” means that the participant is anticipated, or has agreed, to resume injections later in the study. A participant listed as “unable to contact” in the suspended group may be expected to resume injections. IM indicates intramuscular; SQ, subcutaneously.a Indicates that reasons for exclusion included abnormal electrocardiogram results, allergy to aluminum, autoimmune disorder, chronic condition or disease, compromised injection site, current or planned pregnancy, genetic disorder, history of anthrax vaccine adsorbed injections, history of or current cancer, mental illness, military commitment, neurologic condition, ongoing immune suppression therapy, planned surgery, poor venous access, security risk, and substance abuse.
  • Genetics: the Basics

    Abstract Full Text
    JAMA. 2008; 299(11):1388-1388. doi: 10.1001/jama.299.11.1388
  • The Lasker Foundation and Recognition of Scientific Excellence

    Abstract Full Text
    JAMA. 2005; 294(11):1422-1423. doi: 10.1001/jama.294.11.1422
  • JAMA November 24, 2004

    Figure: Growing Role for Umbilical Cord Blood

    Stem cells derived from umbilical cord blood are currently being used to treat a variety of malignancies and rare genetic disorders.
  • The "Duty to Warn" a Patient's Family Members About Hereditary Disease Risks

    Abstract Full Text
    JAMA. 2004; 292(12):1469-1473. doi: 10.1001/jama.292.12.1469
  • JAMA November 14, 2001

    Figure 2: Growth of Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders (MIM) and Its Online Version (OMIM)

    Each entry is an essay on a particular phenotype (usually a disorder) or gene, with extensive bibliographic references and, in the case of OMIM, links to many other sources of information.
  • Antibiotics Show Promise as Therapy for Genetic Disorders

    Abstract Full Text
    JAMA. 2001; 285(16):2067-2068. doi: 10.1001/jama.285.16.2067-JMN0425-2-1
  • JAMA January 21, 1998

    Figure: Airport ‘Gene Shop' Teaches a Captive Audience About Genetic Diseases

    The Gene Shop, which is located between the Body Shop and the Prayer Room in a terminal at England's Manchester Airport, uses interactive touch-screen computer programs and displays about inherited diseases to provide the traveling public an opportunity to learn more about genetics and genetic diseases. (Photo credit: The Gene Shop)