A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease. Over …

Learning Objectives After completing this course, the reader will be able to: Discuss the need
for a multidisciplinary approach to the management of children with retinoblastoma. Identify …

… Plon, Thierry Frebourg, Laurence Brugières; Clinical Management and Tumor Surveillance
… SE Plon is a consultant/advisory board member for Baylor Genetics. No potential conflicts of …

… Score thresholds were then defined in the same manner as those in the local approach, ie,
by selecting the desired likelihood ratio levels from Table 1, yielding a global interpretation …

Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…

Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …

ClinGen — The Clinical Genome Resource | NEJM Skip to main content NEJM Group Follow Us
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Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to
predict risk of developing cancer. In general, sequence‐based testing of germline DNA is used …

Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …

Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult…