文章名稱引用次數(shù)

• Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature80
• Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test56
• BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors56
• Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders49
• False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care46
• Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework45
• Meeting the challenges of implementing rapid genomic testing in acute pediatric care33
• Long-read genome sequencing identifies causal structural variation in a Mendelian disease33
• Somatic TP53 variants frequently confound germ-line testing results31
• Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 133 families with developmental disorders31