dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations
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Tong Ou | D. Xiong | Xiuming Zhang | Huamei Tang | L. Kan | Dayang Chen | Kangqi Lv
[1] S. Mundlos,et al. TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs , 2022, Genome Biology.
[2] O. Pös,et al. Automated prediction of the clinical impact of structural copy number variations , 2022, Scientific Reports.
[3] Zhiyu Peng,et al. AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs , 2021, BMC Genomics.
[4] Tieliu Shi,et al. X-CNV: genome-wide prediction of the pathogenicity of copy number variations , 2021, Genome medicine.
[5] E. Thorland,et al. Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic , 2020, Genetics in Medicine.
[6] Tatiana A. Gurbich,et al. ClassifyCNV: a tool for clinical annotation of copy-number variants , 2020, Scientific Reports.
[7] Michael J. Purcaro,et al. Expanded encyclopaedias of DNA elements in the human and mouse genomes , 2020, Nature.
[8] Andrew G. Sharo,et al. StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants , 2020, bioRxiv.
[9] Tariq Ahmad,et al. A structural variation reference for medical and population genetics , 2020, Nature.
[10] Melissa J. Landrum,et al. ClinVar: improvements to accessing data , 2019, Nucleic Acids Res..
[11] S. South,et al. 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) , 2019, Genetics in Medicine.
[12] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[13] J. Gécz,et al. Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy , 2018 .
[14] David Haussler,et al. The UCSC Genome Browser database: 2019 update , 2018, Nucleic Acids Res..
[15] S. Mundlos,et al. Structural variation in the 3D genome , 2018, Nature Reviews Genetics.
[16] D. Stavropoulos,et al. Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada , 2018, Journal of Medical Genetics.
[17] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[18] Brent S. Pedersen,et al. A map of constrained coding regions in the human genome , 2017, bioRxiv.
[19] Yufeng Shen,et al. Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders , 2017, Nature Communications.
[20] J. Lupski,et al. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage‐sensitive genes with clinical severity in genomic disorders , 2017, Human molecular genetics.
[21] Trevor Hastie,et al. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. , 2016, American journal of human genetics.
[22] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[23] Christopher S. Poultney,et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci , 2015, Neuron.
[24] Heidi L Rehm,et al. ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.
[25] Caleb Webber,et al. Haploinsufficiency predictions without study bias , 2015, Nucleic acids research.
[26] A. Pombo,et al. Three-dimensional genome architecture: players and mechanisms , 2015, Nature Reviews Molecular Cell Biology.
[27] J. R. MacDonald,et al. A copy number variation map of the human genome , 2015, Nature Reviews Genetics.
[28] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[29] Kali T. Witherspoon,et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.
[30] Lars Feuk,et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..
[31] Caroline F. Wright,et al. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation , 2013, Nucleic Acids Res..
[32] Chao Chen,et al. dbVar and DGVa: public archives for genomic structural variation , 2012, Nucleic Acids Res..
[33] Jing Hu,et al. SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..
[34] E. Boerwinkle,et al. dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions , 2011, Human mutation.
[35] Serafim Batzoglou,et al. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++ , 2010, PLoS Comput. Biol..
[36] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[37] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[38] M. Owen,et al. schizophrenia-associated loci Analysis of copy number variations at 15 , 2014 .
[39] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..