Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Presence of fetal DNA in maternal plasma and serum

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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