Genetics In Medicine高引用文章

• Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

  引用次数：80

• Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

  引用次数：56

• BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

  引用次数：56

• Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

  引用次数：49

• False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

  引用次数：46

• Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

  引用次数：45

• Meeting the challenges of implementing rapid genomic testing in acute pediatric care

  引用次数：33

• Long-read genome sequencing identifies causal structural variation in a Mendelian disease

  引用次数：33

• Somatic TP53 variants frequently confound germ-line testing results

  引用次数：31

• Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 133 families with developmental disorders

  引用次数：31