Molecular Genetics & Genomic Medicine

Each article is made available under the terms of the Creative Commons Attribution License

Cover image for Vol. 4 Issue 1

Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.

Online ISSN: 2324-9269

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New video highlight created by Anna Middleton on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Genetic counselors and Genomic Counseling in the United Kingdom."

Recently Published Articles

  1. You have full text access to this OnlineOpen article
    Carrier screening by next-generation sequencing: health benefits and cost effectiveness

    Mohammad Azimi, Kyle Schmaus, Valerie Greger, Dana Neitzel, Robert Rochelle and Tuan Dinh

    Article first published online: 29 JAN 2016 | DOI: 10.1002/mgg3.204

    Thumbnail image of graphical abstract

    We evaluated the cost effectiveness of carrier screening via next-generation DNA sequencing (NGS) versus the traditional genotyping approach by using a robust mathematical model to estimate carefully selected health and other outcomes associated with 14 genetic diseases that major medical societies recommend for screening. The model accounts for all decisions considered by available medical opinion and outcomes relevant to carrier screening and reproductive health, drawing insight from the published literature, available clinical opinion, and subject matter experts.

  2. You have full text access to this OnlineOpen article
    Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves

    Jenny E. Wight, Viet-Huong Nguyen, Marco T. Medina, Christopher Patterson, Reyna M. Durón, Yolly Molina, Yu-Chen Lin, Iris E. Martínez-Juárez, Adriana Ochoa, Aurelio Jara-Prado, Miyabi Tanaka, Dongsheng Bai, Sumaya Aftab, Julia N. Bailey and Antonio V. Delgado-Escueta

    Article first published online: 23 JAN 2016 | DOI: 10.1002/mgg3.195

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    Juvenile myoclonic epilepsy (JME), the most common genetic epilepsy (11% of all epilepsies), remains enigmatic because it is considered one disease instead of several diseases. To address this issue, we performed two-point parametric linkage and haplotype analyses on three large multigenerational/multiplex JME pedigrees from Honduras with three differing JME subsyndromes. Differing chromosome loci identified in specific JME subsyndromes (2q21.2–q31.1, 13q13.3–q31.2, and 17q12) favors the concept of JME as several distinct diseases, and narrows analysis of variants that emerge from whole-exome sequencing.

  3. You have full text access to this OnlineOpen article
    Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

    Neven Maksemous, Bishakha Roy, Robert A. Smith and Lyn R. Griffiths

    Article first published online: 20 JAN 2016 | DOI: 10.1002/mgg3.196

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    We demonstrate the efficiency of our next-generation sequencing (NGS) panel for detecting known and novel mutations for Episodic Ataxia type 2 (EA2) in the calcium channel gene CACNA1A. Transitioning to an NGS platform that performs parallel sequencing enables much more cost-effective diagnosis and a more comprehensive diagnostics test, involving an interrogation of all implicated and related genes simultaneously. This provides the opportunity to identify novel and unexpected mutations increasing diagnostic capability.

  4. You have full text access to this OnlineOpen article
    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

    Katsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, Matthew A. Deardorff, Laura K. Conlin, Ian D. Krantz and Kosuke Izumi

    Article first published online: 20 JAN 2016 | DOI: 10.1002/mgg3.200

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    We report the utility of the droplet digital PCR system in quantifying the mosaic ratio of isochromosome 12p in Pallister–Killian syndrome. Droplet digital PCR should be considered as an effective tool for both clinical and research analytics to precisely quantify mosaic genomic copy number alterations or mosaic mutations.

  5. You have full text access to this OnlineOpen article
    Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

    Barbara Triggs-Raine, Tamara Dyck, Kym M. Boycott, A. Micheil Innes, Carole Ober, Jillian S. Parboosingh, Alexis Botkin, Cheryl R. Greenberg and Elizabeth L. Spriggs

    Article first published online: 19 JAN 2016 | DOI: 10.1002/mgg3.206

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    Hutterites, a religious isolate located in North America, have a number of genetic disorders that are unique and/or over-represented. A diagnostic chip that simultaneously tests for 30 autosomal recessive disorders of significance to this population was developed and validated in partnership with Asper Biotech. We have determined that this diagnostic chip provides a sensitive and specific means for carrier testing and has the potential to provide information that may empower future decision making in the Hutterite community.

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