共 275 条
- [41] Cowley MJ(2019)Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Nucleic Acids Res 47 D1018-88
- [42] McCabe MJ(2015)Large multiallelic copy number variations in humans Nat Genet 47 296-345
- [43] Minoche A(2011)Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants Nat Biotechnol 29 512-23602
- [44] Dinger ME(2014)Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls Nat Biotechnol 32 246-1176
- [45] Sudmant PH(2016)A Roadmap for Regulatory Science Research for Next Generation Sequencing Informatics Sci Transl Med. 8 335ps10-undefined
- [46] Rausch T(2014)Low copy number of the salivary amylase gene predisposes to obesity Nat Genet 46 492-undefined
- [47] Gardner EJ(2020)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) Genet Med. 22 245-undefined
- [48] Handsaker RE(2020)Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants Genet Med 22 336-undefined
- [49] Abyzov A(2005)Segmental duplications and copy-number variation in the human genome Am J Hum Genet 77 78-undefined
- [50] Huddleston J(2018)Nanopore sequencing and assembly of a human genome with ultra-long reads Nat Biotechnol 36 338-undefined