Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Zachary D Stephens"'
Autor:
Zachary D Stephens, Matthew E Hudson, Liudmila S Mainzer, Morgan Taschuk, Matthew R Weber, Ravishankar K Iyer
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0167047 (2016)
An obstacle to validating and benchmarking methods for genome analysis is that there are few reference datasets available for which the "ground truth" about the mutational landscape of the sample genome is known and fully validated. Additionally, the
Externí odkaz:
https://doaj.org/article/469cc3c46b6b4fb7b669d3edc42d6c3b
Autor:
Zachary D Stephens, Skylar Y Lee, Faraz Faghri, Roy H Campbell, Chengxiang Zhai, Miles J Efron, Ravishankar Iyer, Michael C Schatz, Saurabh Sinha, Gene E Robinson
Publikováno v:
PLoS Biology, Vol 13, Iss 7, p e1002195 (2015)
Genomics is a Big Data science and is going to get much bigger, very soon, but it is not known whether the needs of genomics will exceed other Big Data domains. Projecting to the year 2025, we compared genomics with three other major generators of Bi
Externí odkaz:
https://doaj.org/article/403a28b9e2dd41e68aec177f7891fb3d
Autor:
Katharina E. Meijboom, Abbas Abdallah, Nicholas P. Fordham, Hiroko Nagase, Tomás Rodriguez, Carolyn Kraus, Tania F. Gendron, Gopinath Krishnan, Rustam Esanov, Nadja S. Andrade, Matthew J. Rybin, Melina Ramic, Zachary D. Stephens, Alireza Edraki, Meghan T. Blackwood, Aydan Kahriman, Nils Henninger, Jean-Pierre A. Kocher, Michael Benatar, Michael H. Brodsky, Leonard Petrucelli, Fen-Biao Gao, Erik J. Sontheimer, Robert H. Brown, Zane Zeier, Christian Mueller
A hexanucleotide repeat expansion (HRE) consisting of GGGGCC24+ in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both are fatal neurodegenerative diseases with no current a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cb0643afddbe6f2742bd44fb5815a60
https://doi.org/10.1101/2022.05.17.492303
https://doi.org/10.1101/2022.05.17.492303
Autor:
Stefan K.G. Grebe, Jean Pierre A. Kocher, Ravishankar K. Iyer, Dragana Milosevic, Benjamin R. Kipp, Zachary D. Stephens
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Frontiers in Genetics
Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. These difficult to sequence regions include several clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d13c2619292956b98dcbb4dd51111989
https://www.frontiersin.org/articles/10.3389/fgene.2021.716586/full
https://www.frontiersin.org/articles/10.3389/fgene.2021.716586/full
Autor:
Daniel R. O'Brien, Mrunal Dehankar, Jean Pierre A. Kocher, Ravishankar K. Iyer, Zachary D. Stephens, Lewis R. Roberts
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0250915 (2021)
PLoS ONE
PLoS ONE
The integration of viruses into the human genome is known to be associated with tumorigenesis in many cancers, but the accurate detection of integration breakpoints from short read sequencing data is made difficult by human-viral homologies, viral ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c2654667f70bf3a65c55d3e641f5bb3
https://doi.org/10.1101/2021.04.19.440427
https://doi.org/10.1101/2021.04.19.440427
Publikováno v:
BMC Bioinformatics, Vol 19, Iss S20, Pp 67-77 (2018)
BMC Bioinformatics
BMC Bioinformatics
Background With applications in cancer, drug metabolism, and disease etiology, understanding structural variation in the human genome is critical in advancing the thrusts of individualized medicine. However, structural variants (SVs) remain challengi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0d10ed2ff6535d3649e5037233e99b
http://link.springer.com/article/10.1186/s12859-018-2539-x
http://link.springer.com/article/10.1186/s12859-018-2539-x
Publikováno v:
BCB
The ability to infer actionable information from genomic variation data in a resequencing experiment relies on accurately aligning the sequences to a reference genome. However, this accuracy is inherently limited by the quality of the reference assem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8387d0d1270cf677dd7152c87521aa18
https://doi.org/10.1145/3233547.3233582
https://doi.org/10.1145/3233547.3233582
Publikováno v:
ACS Applied Materials & Interfaces. 7:2202-2213
A composite material consisting of TiO2 nanotubes (NT) with WO3 electrodeposited on its surface has been fabricated, detached from its Ti substrate, and attached to a fluorine-doped tin oxide (FTO) film on glass for application to electrochromic (EC)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6a76db782b6565d390ccff229a8b90
https://doi.org/10.1021/am5050696
https://doi.org/10.1021/am5050696
Publikováno v:
BIBM
In this paper, we present a graph search approach for identifying arbitrarily complex structural genomic variation. Our method leverages the ability of long reads (e.g. from Pacific Biosciences platforms) to span multiple breakpoints of complicated l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ade4887a3f39448b82d4e70e32c594e6
https://doi.org/10.1109/bibm.2017.8217647
https://doi.org/10.1109/bibm.2017.8217647
Autor:
Victor Jongeneel, Liudmila Sergeevna Mainzer, Gloria Rendon, Oliver Hofmann, Brad Chapman, Zachary D. Stephens
As the pace of implementing personalized medicine concepts increases, high-throughput variant calling on hundreds of individual genomes per day is a reality that will likely be faced by sequencing facilities across the country in the near future. Whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d53d820f13b91e419dfedf280a41d6d
https://doi.org/10.1101/031021
https://doi.org/10.1101/031021