Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Salvatore Loguercio"'
Autor:
Raquel Dias, Doug Evans, Shang-Fu Chen, Kai-Yu Chen, Salvatore Loguercio, Leslie Chan, Ali Torkamani
Publikováno v:
eLife, Vol 11 (2022)
Genotype imputation is a foundational tool for population genetics. Standard statistical imputation approaches rely on the co-location of large whole-genome sequencing-based reference panels, powerful computing environments, and potentially sensitive
Externí odkaz:
https://doaj.org/article/6da6df6501724033943328bdb93d9bb0
Autor:
Chao Wang, Samantha M. Scott, Kanagaraj Subramanian, Salvatore Loguercio, Pei Zhao, Darren M. Hutt, Nicole Y. Farhat, Forbes D. Porter, William E. Balch
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
How epigenetics coordinate with genetics to impact protein fitness is unknown. Here, using a Variation Spatial Profiling strategy and machine learning, the authors map HDAC impact on a full set of Niemann pick C1 disease variants to quantitate an una
Externí odkaz:
https://doaj.org/article/cdd46cddd7bd45bbba719375caab04d4
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
To date there has not been a study directly comparing relative Igκ rearrangement frequencies obtained from genomic DNA (gDNA) and cDNA and since each approach has potential biases, this is an important issue to clarify. Here we used deep sequencing
Externí odkaz:
https://doaj.org/article/a6c3813cd2814dd4825df56ba34eb245
Autor:
Salvatore Loguercio, E. Mauricio Barajas-Mora, Han-Yu Shih, Michael S. Krangel, Ann J. Feeney
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
CCCTC-binding factor (CTCF) is largely responsible for the 3D architecture of the genome, in concert with the action of cohesin, through the creation of long-range chromatin loops. Cohesin is hypothesized to be the main driver of these long-range chr
Externí odkaz:
https://doaj.org/article/1c04b67f6ffa4dc69583191914d4ed6e
Publikováno v:
PLoS ONE, Vol 8, Iss 8 (2013)
Externí odkaz:
https://doaj.org/article/04734704f00144048611400065140d49
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71171 (2013)
Structured gene annotations are a foundation upon which many bioinformatics and statistical analyses are built. However the structured annotations available in public databases are a sparse representation of biological knowledge as a whole. The rate
Externí odkaz:
https://doaj.org/article/99fce55b9bc641058cd88b9aa55fe30f
Autor:
Salvatore Loguercio, Rupert W Overall, Jacob J Michaelson, Tim Wiltshire, Mathew T Pletcher, Brooke H Miller, John R Walker, Gerd Kempermann, Andrew I Su, Andreas Beyer
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e13920 (2010)
The study of expression quantitative trait loci (eQTL) is a powerful way of detecting transcriptional regulators at a genomic scale and for elucidating how natural genetic variation impacts gene expression. Power and genetic resolution are heavily af
Externí odkaz:
https://doaj.org/article/e1e6da615c0c494e9bd37ca5ba88ea12
Autor:
Duc T Tran, Anita Pottekat, Kouta Lee, Megha Raghunathan, Salvatore Loguercio, Saiful A Mir, Adrienne W Paton, James C Paton, Peter Arvan, Randal J Kaufman, Pamela Itkin-Ansari
Publikováno v:
J Clin Endocrinol Metab
Context Aberrant biosynthesis and secretion of the insulin precursor proinsulin occurs in both type I and type II diabetes. Inflammatory cytokines are implicated in pancreatic islet stress and dysfunction in both forms of diabetes, but the mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dafe875f3c854610097ee122a7d75e37
https://europepmc.org/articles/PMC10233482/
https://europepmc.org/articles/PMC10233482/
Autor:
Salvatore Loguercio, Nicole Y. Farhat, Kanagaraj Subramanian, Pei Zhao, Darren M. Hutt, Forbes D. Porter, Samantha M. Scott, William E. Balch, Chao Wang
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature Communications
Nature communications, vol 10, iss 1
Nature Communications
Nature communications, vol 10, iss 1
To understand the impact of epigenetics on human misfolding disease, we apply Gaussian-process regression (GPR) based machine learning (ML) (GPR-ML) through variation spatial profiling (VSP). VSP generates population-based matrices describing the spa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce12b071821cd1c210d9f9fb9b34a81
https://doaj.org/article/cdd46cddd7bd45bbba719375caab04d4
https://doaj.org/article/cdd46cddd7bd45bbba719375caab04d4