The original article can be found online at https://doi.org/10.1038/s41436-019-0686-8.
Correction to: Genetics in Medicine (2020) 22:245–257; https://doi.org/10.1038/s41436-019-0686-8, published online 06 November 2019
Tabled
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| Section 5: Evaluation of inheritance pattern/family history for patient being studied | |||
| Observed copy-number loss is de novo | 5A. Use appropriate category from de novo scoring section in section 4. | Use de novo scoring categories from section 4 (4A–4D) to determine score | 0.45 |
| Observed copy-number loss is inherited | 5B. Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent. | −0.30 (range: 0 to −0.45) | −0.45 |
| 5C. Patient with nonspecific phenotype and no family history. CNV is inherited from an apparently unaffected parent. | −0.15 (range: 0 to −0.30) | −0.30 | |
| 5D. CNV segregates with a consistent phenotype observed in the patient’s family. | Use segregation scoring categories from section 4 (4F–4H) to determine score | 0.45 | |
| Observed copy-number loss—nonsegregations | 5E. Use appropriate category from nonsegregation section in section 4. | Use nonsegregation scoring categories from section 4 (4I–4K) to determine score | −0.45 |
| Other | 5F. Inheritance information is unavailable or uninformative. | 0 | 0 |
| 5G. Inheritance information is unavailable or uninformative. The patient phenotype is nonspecific, but is consistent with what has been described in similar cases. | 0.10 (range: 0 to 0.15) | 0.15 | |
| 5H. Inheritance information is unavailable or uninformative. The patient phenotype is highly specific and consistent with what has been described in similar cases. | 0.15 (range: 0 to 0.30) | 0.30 | |
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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)Genetics in MedicineVol. 22Issue 2
- PreviewCopy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been in widespread clinical use, tremendous strides have been made in understanding the effects of copy-number variants (CNVs) in both affected individuals and the general population. However, continued broad implementation of array and next-generation sequencing–based technologies will expand the types of CNVs encountered in the clinical setting, as well as our understanding of their impact on human health.
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