1. John,Jumper 英国 DeepMind 2023拉斯克奖 Accurate proteome-wide missense variant effect prediction with AlphaMissense
2. Demis,Hassabis 英国 DeepMind 2023拉斯克奖 Accurate proteome-wide missense variant effect prediction with AlphaMissense
3. Brian J,Druker 美国 Oregon Health and Science University 2003美国医学院院士;2009拉斯克奖;2007美国科学院院士 Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult..
4. Mary-Claire,King 美国 University of Washington 1994美国医学院院士;2005美国科学院院士;2014拉斯克奖 Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital ab..
5. Charles L,Sawyers 美国 Memorial Sloan-Kettering Cancer Center 2009拉斯克奖;2010美国科学院院士;2008美国医学院院士 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer
6. 邱贵兴 中国 中国医学科学院 中国工程院院士 SIGMA leverages protein structural information to predict the pathogenicity of missense variants
7. Biesecker, Leslie G. 美国 National Human Genome Research Institute 2016美国医学院院士 ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for se..
8. Hirschhorn, Joel N. 美国 Boston Children's Hospital 2020美国医学院院士 Inferring compound heterozygosity from large-scale exome sequencing data
9. Daly, Mark J. 美国 Massachusetts General Hospital 2017美国医学院院士 Inferring compound heterozygosity from large-scale exome sequencing data
10. Hripcsak, George 美国 Columbia University 2012美国医学院院士 Polygenic risk alters the penetrance of monogenic kidney disease
11. 沈洪兵 中国 南京医科大学 中国工程院院士 Identification of genetically predicted DNA methylation markers associated with non-small cell lung ..
12. Pomeroy, Scott L. 美国 Boston Children's Hospital 2017美国医学院院士 Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma
13. Howard Y. Chang 美国 Stanford University 2017美国医学院院士;2020美国科学院院士 Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma
14. Mischel, Paul S. 美国 Stanford University 2022美国医学院院士 Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma
15. Hugo Bellen 美国 Baylor College of Medicine 2020美国科学院院士 Rare de novo gain-of-function missense variants in DOT1L are associated with de..
16. Murray, Jeffrey C. 美国 University of Iowa, College of Medicine 2005美国医学院院士 Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a..
17. 沈洪兵 中国 南京医科大学 中国工程院院士 Integrative splicing-quantitative-trait-locus analysis reveals risk loci for non-small-cell lung can..
18. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
19. Gleeson, Joseph G. 美国 University of California, San Diego 2013美国医学院院士 Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of ..
20. 沈洪兵 中国 南京医科大学 中国工程院院士 Mosaic Chromosomal Alterations Are Associated With Increased Lung Cancer Risk: Insight From the INTE..