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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology.Genet Med. 2015; 17: 405-424
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.Hum Mol Genet. 2015; 24: 2125-2137
- Predicting functional effect of human missense mutations using PolyPhen-2.Curr Protoc Hum Genet. 2013; (Chapter 7:Unit7 20)https://doi.org/10.1002/0471142905.hg0720s76
- Predicting deleterious amino acid substitutions.Genome Res. 2001; 11: 863-874
- Predicting the functional effect of amino acid substitutions and indels.PLoS One. 2012; 7: e46688
- DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins.Nucleic Acids Res. 2017; 45: W201-W206
- MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.Genome Biol. 2019; 20: 223
- Putting genetic variants to a fitness test.Nat Rev Genet. 2018; 19: 667
- Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas.Hum Genet. 2018; 137: 665-678
- Disease variant prediction with deep generative models of evolutionary data.Nature. 2021; 599: 91-95
- Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.Nat Genet. 2018; 50: 1219-1224
- Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification.Nat Genet. 2022; 54: 30-39
- Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores.Genet Med. 2017; 19: 322-329
- Clinical use of current polygenic risk scores may exacerbate health disparities.Nat Genet. 2019; 51: 584-591
- Comprehensive analysis of genetic ancestry and its molecular correlates in cancer.Cancer Cell. 2020; 37: 639-654.e6
- Neural network-based integration of polygenic and clinical information: development and validation of a prediction model for 10-year risk of major adverse cardiac events in the UK Biobank cohort.Lancet Digital Health. 2022; 4: e84-e94
- Human Demographic history impacts genetic risk prediction across diverse populations.Am J Hum Genet. 2017; 100: 635-649
- Taking the next steps to implement polygenic risk scoring for improved risk stratification and primary prevention of coronary artery disease.Eur J Prev Cardiol. 2020; 29: 580-587
- Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade.Nat Commun. 2021; 12: 3355
- A Monte Carlo algorithm for computing the IBD matrices using incomplete marker information.Heredity (Edinb). 2005; 94: 305-315
- Prediction of multilocus identity-by-descent.Genetics. 2007; 176: 2307-2315
- Whole population, genome-wide mapping of hidden relatedness.Genome Res. 2009; 19: 318-326
- PLINK: a tool set for whole-genome association and population-based linkage analyses.Am J Hum Genet. 2007; 81: 559-575
- Rapid detection of identity-by-descent tracts for mega-scale datasets.Nat Commun. 2021; 12: 3546
- METRO: multi-ancestry transcriptome-wide association studies for powerful gene-trait association detection.Am J Hum Genet. 2022; 109: 783-801
- ctDNA guiding adjuvant immunotherapy in urothelial carcinoma.Nature. 2021; 595: 432-437
- DISMIR: deep learning-based noninvasive cancer detection by integrating DNA sequence and methylation information of individual cell-free DNA reads.Brief Bioinform. 2021; 22https://doi.org/10.1093/bib/bbab250
- The epigenetic progenitor origin of human cancer.Nat Rev Genet. 2006; 7: 21-33
- Widespread hypomethylation occurs early and synergizes with gene amplification during esophageal carcinogenesis.PLoS Genet. 2011; 7: e1001356
- CancerLocator: non-invasive cancer diagnosis and tissue-of-origin prediction using methylation profiles of cell-free DNA.Genome Biol. 2017; 18: 53
- Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.Nat Commun. 2017; 8: 1324
- Metastatic tumor burden and loci as predictors of first line sunitinib treatment efficacy in patients with renal cell carcinoma.Sci Rep. 2019; 9: 7754
- The differential effects of tumor burdens on predicting the net benefits of ssCART-19 cell treatment on r/r B-ALL patients.Sci Rep. 2022; 12: 378
- Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.BMC Med Genomics. 2017; 10: 33
- A machine learning approach to optimizing cell-free DNA sequencing panels: with an application to prostate cancer.BMC Cancer. 2020; 20: 820
- Biologically informed deep neural network for prostate cancer discovery.Nature. 2021/10/01 2021; 598: 348-352
- Counterfactual fairness.Adv Neural Inf Process Syst. 2017; 30
- Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.Science. 2019; 365: eaat7693
- Opinion: big data scientists must be ethicists too.https://www.broadinstitute.org/blog/opinion-big-data-scientists-must-be-ethicists-tooDate: 2019Date accessed: June 28, 2022
- Regulation (EU) 2016/679 of the European Parliament and of the Council of 27 April 2016 on the protection of natural persons with regard to the processing of personal data and on the free movement of such data, and repealing Directive 95/46/EC (General Data Protection Regulation).Official Journal of the European Union. 2016; 59: 1-88http://data.europa.eu/eli/reg/2016/679/ojDate accessed: October 14, 2022
- The practical implementation of artificial intelligence technologies in medicine.Nat Med. 2019; 25: 30-36
Konečný J., McMahan H.B., Yu F.X., et al., Federated learning: Strategies for improving communication efficiency, 2016. Available at: https://research.google/pubs/pub45648/. Accessed 10 May 2022.
- Federated learning: collaborative machine learning without centralized training data.2017 (Available at:)https://ai.googleblog.com/2017/04/federated-learning-collaborative.htmlDate accessed: June 28, 2022
- Explainable AI (xAI) for Anatomic Pathology.Adv Anat Pathol. 2020; 27: 241-250