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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1935 1
1938 1
1945 1
1946 1
1947 5
1949 3
1952 4
1953 6
1954 2
1955 2
1956 2
1957 4
1958 4
1959 3
1960 3
1961 4
1962 11
1963 10
1964 23
1965 21
1966 13
1967 56
1968 105
1969 118
1970 176
1971 236
1972 205
1973 259
1974 304
1975 406
1976 385
1977 435
1978 499
1979 506
1980 551
1981 582
1982 681
1983 802
1984 912
1985 1072
1986 1204
1987 1631
1988 2084
1989 2683
1990 3259
1991 3866
1992 4687
1993 5632
1994 6422
1995 7759
1996 8494
1997 9790
1998 11123
1999 12751
2000 14684
2001 16201
2002 17423
2003 19385
2004 21548
2005 24659
2006 27353
2007 29364
2008 31961
2009 33705
2010 37215
2011 41078
2012 44475
2013 47844
2014 52541
2015 55865
2016 57340
2017 58448
2018 60483
2019 64856
2020 70283
2021 74842
2022 66541
2023 62678
2024 69616
2025 4227

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1,074,644 results

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Page 1
Gene co-expression analysis for functional classification and gene-disease predictions.
van Dam S, Võsa U, van der Graaf A, Franke L, de Magalhães JP. van Dam S, et al. Brief Bioinform. 2018 Jul 20;19(4):575-592. doi: 10.1093/bib/bbw139. Brief Bioinform. 2018. PMID: 28077403 Free PMC article.
Gene co-expression networks can be used to associate genes of unknown function with biological processes, to prioritize candidate disease genes or to discern transcriptional regulatory programmes. ...We provide an overview of methods and tools used to …
Gene co-expression networks can be used to associate genes of unknown function with biological processes, to prioritize candid …
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.
Javierre BM, Burren OS, Wilder SP, Kreuzhuber R, Hill SM, Sewitz S, Cairns J, Wingett SW, Várnai C, Thiecke MJ, Burden F, Farrow S, Cutler AJ, Rehnström K, Downes K, Grassi L, Kostadima M, Freire-Pritchett P, Wang F; BLUEPRINT Consortium; Stunnenberg HG, Todd JA, Zerbino DR, Stegle O, Ouwehand WH, Frontini M, Wallace C, Spivakov M, Fraser P. Javierre BM, et al. Cell. 2016 Nov 17;167(5):1369-1384.e19. doi: 10.1016/j.cell.2016.09.037. Cell. 2016. PMID: 27863249 Free PMC article.
Interacting regions are enriched in genetic variants linked with altered expression of genes they contact, highlighting their functional role. We exploit this rich resource to connect non-coding disease variants to putative target promoters, prioritizing thousands o …
Interacting regions are enriched in genetic variants linked with altered expression of genes they contact, highlighting their functio …
HLA variation and disease.
Dendrou CA, Petersen J, Rossjohn J, Fugger L. Dendrou CA, et al. Nat Rev Immunol. 2018 May;18(5):325-339. doi: 10.1038/nri.2017.143. Epub 2018 Jan 2. Nat Rev Immunol. 2018. PMID: 29292391 Review.
Fifty years since the first description of an association between HLA and human disease, HLA molecules have proven to be central to physiology, protective immunity and deleterious, disease-causing autoimmune reactivity. ...Here, we review our current understanding o …
Fifty years since the first description of an association between HLA and human disease, HLA molecules have proven to be central to p …
Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes an …
Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects g …
Enhancers: bridging the gap between gene control and human disease.
Karnuta JM, Scacheri PC. Karnuta JM, et al. Hum Mol Genet. 2018 Aug 1;27(R2):R219-R227. doi: 10.1093/hmg/ddy167. Hum Mol Genet. 2018. PMID: 29726898 Free PMC article. Review.
Enhancers are a class of regulatory elements essential for precise spatio-temporal control of gene expression during development and in terminally differentiated cells. This review highlights signature features of enhancer elements as well as new advances that provide mech …
Enhancers are a class of regulatory elements essential for precise spatio-temporal control of gene expression during development and …
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.
Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N. Kircher M, et al. Nat Commun. 2019 Aug 8;10(1):3583. doi: 10.1038/s41467-019-11526-w. Nat Commun. 2019. PMID: 31395865 Free PMC article.
The majority of common variants associated with common diseases, as well as an unknown proportion of causal mutations for rare diseases, fall in noncoding regions of the genome. ...Here, we perform saturation mutagenesis in conjunction with massively parallel report …
The majority of common variants associated with common diseases, as well as an unknown proportion of causal mutations for rare dis …
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.
Griesemer D, Xue JR, Reilly SK, Ulirsch JC, Kukreja K, Davis JR, Kanai M, Yang DK, Butts JC, Guney MH, Luban J, Montgomery SB, Finucane HK, Novina CD, Tewhey R, Sabeti PC. Griesemer D, et al. Cell. 2021 Sep 30;184(20):5247-5260.e19. doi: 10.1016/j.cell.2021.08.025. Epub 2021 Sep 16. Cell. 2021. PMID: 34534445 Free PMC article.
3' untranslated region (3'UTR) variants are strongly associated with human traits and diseases, yet few have been causally identified. We developed the massively parallel reporter assay for 3'UTRs (MPRAu) to sensitively assay 12,173 3'UTR variants. ...Using endogenous alle …
3' untranslated region (3'UTR) variants are strongly associated with human traits and diseases, yet few have been causally identified …
Factor graph-aggregated heterogeneous network embedding for disease-gene association prediction.
He M, Huang C, Liu B, Wang Y, Li J. He M, et al. BMC Bioinformatics. 2021 Mar 29;22(1):165. doi: 10.1186/s12859-021-04099-3. BMC Bioinformatics. 2021. PMID: 33781206 Free PMC article.
BACKGROUND: Exploring the relationship between disease and gene is of great significance for understanding the pathogenesis of disease and developing corresponding therapeutic measures. The prediction of disease-gene association by computational …
BACKGROUND: Exploring the relationship between disease and gene is of great significance for understanding the pathogenesis of …
A multidimensional systems biology analysis of cellular senescence in aging and disease.
Avelar RA, Ortega JG, Tacutu R, Tyler EJ, Bennett D, Binetti P, Budovsky A, Chatsirisupachai K, Johnson E, Murray A, Shields S, Tejada-Martinez D, Thornton D, Fraifeld VE, Bishop CL, de Magalhães JP. Avelar RA, et al. Genome Biol. 2020 Apr 7;21(1):91. doi: 10.1186/s13059-020-01990-9. Genome Biol. 2020. PMID: 32264951 Free PMC article.
BACKGROUND: Cellular senescence, a permanent state of replicative arrest in otherwise proliferating cells, is a hallmark of aging and has been linked to aging-related diseases. Many genes play a role in cellular senescence, yet a comprehensive understanding of its p …
BACKGROUND: Cellular senescence, a permanent state of replicative arrest in otherwise proliferating cells, is a hallmark of aging and has be …
Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes.
Alshahrani M, Hoehndorf R. Alshahrani M, et al. Bioinformatics. 2018 Sep 1;34(17):i901-i907. doi: 10.1093/bioinformatics/bty559. Bioinformatics. 2018. PMID: 30423077 Free PMC article.
MOTIVATION: In the past years, several methods have been developed to incorporate information about phenotypes into computational disease gene prioritization methods. These methods commonly compute the similarity between a disease's (or patient's) phen …
MOTIVATION: In the past years, several methods have been developed to incorporate information about phenotypes into computational disease …
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