Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Anthony P. Fejes"'
Publikováno v:
Frontiers in Genetics, Vol 5 (2014)
One of the challenges in the analysis of large data sets, particularly in a population-based setting, is the ability to perform comparisons across projects. This has to be done in such a way that the integrity of each individual project is maintained
Externí odkaz:
https://doaj.org/article/8c52240e53374a32b31676dbea700a84
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
Autor:
Barry Moore, Chad D. Huff, Man Li, Mark Yandell, Karen Eilbeck, Lynn B. Jorde, Lon Phan, Steven Flygare, Edgar Javier Hernandez, Hao Hu, Martin G. Reese, Anthony P. Fejes
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-13 (2018)
BMC Bioinformatics
BMC Bioinformatics
Background Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole genome sequences (WGS). Fast, scalable solutions are needed for discovery research, for clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e0b58269f105e0351991aa2387db041
https://doi.org/10.1186/s12859-018-2056-y
https://doi.org/10.1186/s12859-018-2056-y
Autor:
Timothee Cezard, Angela Tam, Michael Snyder, Marco A. Marra, Elizabeth D. Wederell, Pamela A. Hoodless, Mikhail Bilenky, Martin Krzywinski, Martin Hirst, Steven J.M. Jones, Ghia Euskirchen, A. Gordon Robertson, Nina Thiessen, Rebecca Cullum, Inanc Birol, Anthony P. Fejes, Thomas Zeng, Yongjun Zhao
Publikováno v:
Genome Research. 18:1906-1917
We characterized the relationship of H3K4me1 and H3K4me3 at distal and proximal regulatory elements by comparing ChIP-seq profiles for these histone modifications and for two functionally different transcription factors: STAT1 in the immortalized HeL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff5f4feb299d67f6b1f27b55842e4525
https://doi.org/10.1101/gr.078519.108
https://doi.org/10.1101/gr.078519.108
Autor:
Steven J.M. Jones, Ryan D. Morin, Matthew N. Bainbridge, Trevor J. Pugh, Martin Hirst, Richard Varhol, Anthony P. Fejes, Helen McDonald, Martin Krzywinski, Marco A. Marra
Publikováno v:
BioTechniques. 45:81-94
Sequence-based methods for transcriptome characterization have typically relied on generation of either serial analysis of gene expression tags or expressed sequence tags. Although such approaches have the potential to enumerate transcripts by counti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cd87d96e033eca0c0fca48def4be006
https://doi.org/10.2144/000112900
https://doi.org/10.2144/000112900
Publikováno v:
Photosynthesis Research. 78:195-203
A proteomics approach was evaluated for analysis of photosyntheis-related proteins that are characteristic of chromatophores, particles derived from purple phototrophic bacterial intracytoplasmic membranes. Proteins of purified chromatophores from Rh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f872f5c5efed92cf49db1644750f79ed
https://doi.org/10.1023/b:pres.0000006752.81486.74
https://doi.org/10.1023/b:pres.0000006752.81486.74
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 5 (2014)
Frontiers in Genetics, Vol 5 (2014)
One of the challenges in the analysis of large data sets, particularly in a population-based setting, is the ability to perform comparisons across projects. This has to be done in such a way that the integrity of each individual project is maintained
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc978704831716624fdc1d94ec9f72bf
https://doi.org/10.3389/fgene.2014.00325
https://doi.org/10.3389/fgene.2014.00325
Publikováno v:
eLife
DNA methylation is an essential epigenetic mark whose role in gene regulation and its dependency on genomic sequence and environment are not fully understood. In this study we provide novel insights into the mechanistic relationships between genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4791706a7c6731fb9f0b7ab8f34dda56
https://pubmed.ncbi.nlm.nih.gov/23755361
https://pubmed.ncbi.nlm.nih.gov/23755361
Autor:
Inanc Birol, Joseph M. Connors, Andrew J. Mungall, Randy D. Gascoyne, Karen Mungall, Ryan D. Morin, Nathalie A. Johnson, Anthony P. Fejes, Marco A. Marra, Alireza Hadj Khodabakhshi, Steven J.M. Jones, Madison Bolger-Munro
Publikováno v:
Oncotarget
ResearcherID
ResearcherID
Somatic hypermutation (SHM) in the variable region of immunoglobulin genes (IGV) naturally occurs in a narrow window of B cell development to provide high-affinity antibodies. However, SHM can also aberrantly target proto-oncogenes and cause genome i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8afb3d449c8600906084ea56c5521e6e
https://pubmed.ncbi.nlm.nih.gov/23131835
https://pubmed.ncbi.nlm.nih.gov/23131835
Autor:
Moien Kanaan, Hashem Shahin, Steven J.M. Jones, Ian G. Phelps, R. Curtis Rogers, Hatice Akay, Teresa Zelinski, Gail Coghlan, Anthony P. Fejes, Gisele E. Ishak, Shing Hei Zhan, Albert E. Chudley, Barbara Triggs-Raine, Mustafa Tekin, Dan Doherty, Aizeddin A. Mhanni, A. Micheil Innes, Edmond G. Lemire
Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the litera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8b072def69c63999c8bb770c7d27a1
https://europepmc.org/articles/PMC3397254/
https://europepmc.org/articles/PMC3397254/
Autor:
Anna F. Lee, Alicia A. Tone, Andrew Roth, Adrian Wan, Samuel Aparicio, Sohrab P. Shah, Clara Salamanca, Gavin Ha, S-W Grace Cheng, Robert H. Young, Christine Chow, Alireza Heravi-Moussavi, William D. Foulkes, Martin Hirst, Anthony P. Fejes, Janine Senz, Barbara Pasini, Steven J.M. Jones, Gregg B. Morin, Steve E. Kalloger, Niki Boyd, Michael S. Anglesio, Chengquan Zhao, Leah M Prentice, Cheng-Han Lee, Blake Gilks, Winnie Yang, Blaise A. Clarke, Michelle M.M. Woo, Poul H. Sorensen, David G. Huntsman, Sarah Maines-Bandiera, Marco A. Marra, Nancy Hamel
Germline truncating mutations in DICER1, an endoribonuclease in the RNase III family that is essential for processing microRNAs, have been observed in families with the pleuropulmonary blastoma-family tumor and dysplasia syndrome. Mutation carriers a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e85ee9c04b144ec8d67f28390f31e7e5
http://hdl.handle.net/2318/115457
http://hdl.handle.net/2318/115457