Zobrazeno 1 - 10
of 23
pro vyhledávání: '"John Stamatoyannopoulos"'
Autor:
Charles E. Breeze, Eric Haugen, María Gutierrez-Arcelus, Xiaozheng Yao, Andrew Teschendorff, Stephan Beck, Ian Dunham, John Stamatoyannopoulos, Nora Franceschini, Mitchell J. Machiela, Sonja I. Berndt
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to identify potential biological mechan
Externí odkaz:
https://doaj.org/article/9f08d77a09614b38b12d6c983e37bd21
Autor:
Pritesh R. Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P. Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Stu
Externí odkaz:
https://doaj.org/article/8998ed9cbc534c00a98e747b63320443
Autor:
Kiriaki Paschoudi, Grigorios Georgolopoulos, Pavel Sova, Ioannis Ninos Vasiloudis, Alexandra Kirtsou, Fotios Papadopoulos, Mineo Iwata, Hau Wang, Christina Beta, Thalia Papayannopoulou, John Stamatoyannopoulos, Evangelia Yannaki, Jeff Viestra, Nikoletta Psatha
Publikováno v:
HemaSphere, Vol 7, p e995514a (2023)
Externí odkaz:
https://doaj.org/article/758a05ded29b45039cacc609d16d37cd
Autor:
Charles E. Breeze, Eric Haugen, Alex Reynolds, Andrew Teschendorff, Jenny van Dongen, Qing Lan, Nathaniel Rothman, Guillaume Bourque, Ian Dunham, Stephan Beck, John Stamatoyannopoulos, Nora Franceschini, Sonja I. Berndt
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-22 (2022)
Abstract Background Genome-wide association study (GWAS) single nucleotide polymorphisms (SNPs) are known to preferentially co-locate to active regulatory elements in tissues and cell types relevant to disease aetiology. Further characterisation of a
Externí odkaz:
https://doaj.org/article/f713b55d60b34f61ba6174a3332878fb
Autor:
Noah J Connally, Sumaiya Nazeen, Daniel Lee, Huwenbo Shi, John Stamatoyannopoulos, Sung Chun, Chris Cotsapas, Christopher A Cassa, Shamil R Sunyaev
Publikováno v:
eLife, Vol 11 (2022)
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is widely assumed that such alleles exert small regulatory effects on the expression of cis-linked genes. However, despite the availability of gene expressio
Externí odkaz:
https://doaj.org/article/5682a44ba09742f6bec90dd82c1d645c
Autor:
Elizabeth A. Morton, Ashley N. Hall, Elizabeth Kwan, Calvin Mok, Konstantin Queitsch, Vivek Nandakumar, John Stamatoyannopoulos, Bonita J. Brewer, Robert Waterston, Christine Queitsch
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 1, Pp 417-430 (2020)
Individuals within a species can exhibit vast variation in copy number of repetitive DNA elements. This variation may contribute to complex traits such as lifespan and disease, yet it is only infrequently considered in genotype-phenotype associations
Externí odkaz:
https://doaj.org/article/2aa0e1c9e4854b5a8b31e14929ff203f
Autor:
Marion Cremer, Volker J. Schmid, Felix Kraus, Yolanda Markaki, Ines Hellmann, Andreas Maiser, Heinrich Leonhardt, Sam John, John Stamatoyannopoulos, Thomas Cremer
Publikováno v:
Epigenetics & Chromatin, Vol 10, Iss 1, Pp 1-17 (2017)
Abstract Background The association of active transcription regulatory elements (TREs) with DNAse I hypersensitivity (DHS[+]) and an ‘open’ local chromatin configuration has long been known. However, the 3D topography of TREs within the nuclear l
Externí odkaz:
https://doaj.org/article/cf677d70afed42d89fc8fced8e325c9f
Autor:
Marat D. Kazanov, Steven A. Roberts, Paz Polak, John Stamatoyannopoulos, Leszek J. Klimczak, Dmitry A. Gordenin, Shamil R. Sunyaev
Publikováno v:
Cell Reports, Vol 13, Iss 6, Pp 1103-1109 (2015)
An antiviral component of the human innate immune system—the APOBEC cytidine deaminases—was recently identified as a prominent source of mutations in cancers. Here, we investigated the distribution of APOBEC-induced mutations across the genomes o
Externí odkaz:
https://doaj.org/article/b255b4ef9a3a4d4192da9d13c7899b5c
Autor:
Hagit Hochner, Catherine Allard, Einat Granot-Hershkovitz, Jinbo Chen, Colleen M Sitlani, Sandra Sazdovska, Thomas Lumley, Barbara McKnight, Kenneth Rice, Daniel A Enquobahrie, James B Meigs, Pui Kwok, Marie-France Hivert, Ingrid B Borecki, Felicia Gomez, Ting Wang, Cornelia van Duijn, Najaf Amin, Jerome I Rotter, John Stamatoyannopoulos, Vardiella Meiner, Orly Manor, Josée Dupuis, Yechiel Friedlander, David S Siscovick
Publikováno v:
PLoS Genetics, Vol 11, Iss 10, p e1005573 (2015)
Loci identified in genome-wide association studies (GWAS) of cardio-metabolic traits account for a small proportion of the traits' heritability. To date, most association studies have not considered parent-of-origin effects (POEs). Here we report inv
Externí odkaz:
https://doaj.org/article/feaa2cfb39d74a1babfb20cd693b93fe
Autor:
Nisha Rajagopal, Wei Xie, Yan Li, Uli Wagner, Wei Wang, John Stamatoyannopoulos, Jason Ernst, Manolis Kellis, Bing Ren
Publikováno v:
PLoS Computational Biology, Vol 9, Iss 3, p e1002968 (2013)
Transcriptional enhancers play critical roles in regulation of gene expression, but their identification in the eukaryotic genome has been challenging. Recently, it was shown that enhancers in the mammalian genome are associated with characteristic h
Externí odkaz:
https://doaj.org/article/74cd5187b5454c549eea23cac04c95fe