Searching journal content for articles similar to Amendola et al. 25 (3): 305.

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  1. Method: Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
    • Joshua Traynelis,
    • Michael Silk,
    • Quanli Wang,
    • Samuel F. Berkovic,
    • Liping Liu,
    • David B. Ascher,
    • David J. Balding,
    • and Slavé Petrovski
    Genome Res. October 2017 27: 1715-1729; Published in Advance September 1, 2017, doi:10.1101/gr.226589.117
    ...of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal variants identified among a growing list of disease genes. The challenge is, given the DNA sequence of a new patient, to distinguish...
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  2. Research: Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young
    • D. Nicole R. Methner,
    • Steven E. Scherer,
    • Katherine Welch,
    • Magdalena Walkiewicz,
    • Christine M. Eng,
    • John W. Belmont,
    • Mark C. Powell,
    • Viktoriya Korchina,
    • Harsha Vardhan Doddapaneni,
    • Donna M. Muzny,
    • Richard A. Gibbs,
    • Dwayne A. Wolf,
    • Luis A. Sanchez,
    • and Roger Kahn
    Genome Res. September 2016 26: 1170-1177; Published in Advance July 19, 2016, doi:10.1101/gr.195800.115
    ...sequencing data. Nat Genet 43: 491–498. DorschnerMO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, et al. 2013. Actionable, pathogenic incidental findings in 1,000 participants’ exomes.Am J Hum Genet 93: 631–640. Giudici V, Spanaki A, Hendry J, Mead...
  3. Perspective: Parlez-vous VUS?
    • Gregory M. Cooper
    Genome Res. October 2015 25: 1423-1426; doi:10.1101/gr.190116.115
    ...Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, et al. 2015. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25: 305–315. Toward better variant-disease inference Genome Research...
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