منابع مشابه
Diagnostic clinical genome and exome sequencing.
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
متن کاملDiagnostic Clinical Genome and Exome Sequencing
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
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This article has no abstract.
متن کاملBeyond sequencing: new diagnostic tests turn to pathways.
I n cancer, as in life, DNA doesn't have the last word. Although some gene mutations can predict response to certain targeted therapies, single-gene testing has limits. " Most of biology and probably the large fraction of cancer biology doesn't occur at a chromosomal level, " said NCI geneticist Ken Buetow, Ph.D., at the 2010 American Association for Cancer Research conference on molecular diag...
متن کاملChallenges of diagnostic exome sequencing in an inbred founder population
Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with multiple rare/novel "deleterious" variants occurring in the homozygous state in the affected individ...
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ژورنال
عنوان ژورنال: ACS Applied Materials & Interfaces
سال: 2019
ISSN: 1944-8244,1944-8252
DOI: 10.1021/acsami.9b12568