User profiles for Javier Santoyo-Lopez
Javier Santoyo-LopezEdinburgh Genomics Verified email at ed.ac.uk Cited by 41331 |
Statistical methods for analysis of high-throughput RNA interference screens
…, D Wrobel, CJ Kennedy, E Shanks, J Santoyo-Lopez… - Nature …, 2009 - nature.com
RNA interference (RNAi) has become a powerful technique for reverse genetics and drug
discovery, and in both of these areas large-scale high-throughput RNAi screens are commonly …
discovery, and in both of these areas large-scale high-throughput RNAi screens are commonly …
Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project
…, H Rodriguez, H Rosenfelder, J Santoyo-Lopez… - Nature …, 2008 - nature.com
The Minimum Information for Biological and Biomedical Investigations (MIBBI) project aims
to foster the coordinated development of minimum-information checklists and provide a …
to foster the coordinated development of minimum-information checklists and provide a …
[HTML][HTML] Initial genomics of the human nucleolus
We report for the first time the genomics of a nuclear compartment of the eukaryotic cell. 454
sequencing and microarray analysis revealed the pattern of nucleolus-associated chromatin …
sequencing and microarray analysis revealed the pattern of nucleolus-associated chromatin …
[HTML][HTML] Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures
…, J Meehan, CE Mason, J Santoyo-Lopez… - Nature …, 2014 - nature.com
There is a critical need for standard approaches to assess, report and compare the technical
performance of genome-scale differential gene expression experiments. Here we assess …
performance of genome-scale differential gene expression experiments. Here we assess …
[HTML][HTML] Mutational landscape of a chemically-induced mouse model of liver cancer
…, SJ Aitken, C Feig, M Lukk, J Santoyo-Lopez… - Journal of …, 2018 - Elsevier
Background & Aims Carcinogen-induced mouse models of liver cancer are used
extensively to study the pathogenesis of the disease and are critical for validating candidate …
extensively to study the pathogenesis of the disease and are critical for validating candidate …
poRe: an R package for the visualization and analysis of nanopore sequencing data
…, M Thomson, J Risse, R Talbot, J Santoyo-Lopez… - …, 2015 - academic.oup.com
Motivation: The Oxford Nanopore MinION device represents a unique sequencing technology.
As a mobile sequencing device powered by the USB port of a laptop, the MinION has …
As a mobile sequencing device powered by the USB port of a laptop, the MinION has …
267 Spanish exomes reveal population-specific differences in disease-related genetic variation
…, S Borrego, J Santoyo-López… - Molecular biology …, 2016 - academic.oup.com
Recent results from large-scale genomic projects suggest that allele frequencies, which are
highly relevant for medical purposes, differ considerably across different populations. The …
highly relevant for medical purposes, differ considerably across different populations. The …
[PDF][PDF] A dominantly inherited 5′ UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer
…, JM Ellingford, G Beaman, J Santoyo-Lopez… - The American Journal of …, 2018 - cell.com
Pathogenic variants in BRCA1 or BRCA2 are identified in ∼20% of families with multiple
individuals affected by early-onset breast and/or ovarian cancer. Extensive searches for …
individuals affected by early-onset breast and/or ovarian cancer. Extensive searches for …
[PDF][PDF] DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
…, L Cleal, V Borel, A Fluteau, J Santoyo-Lopez… - The American Journal of …, 2018 - cell.com
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA
polymerase. Here we report the identification of biallelic mutations in POLE, encoding the …
polymerase. Here we report the identification of biallelic mutations in POLE, encoding the …
[HTML][HTML] Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
…, B Uszczynska-Ratajczak, J Santoyo-Lopez… - Nature …, 2016 - nature.com
Long non-coding RNAs (lncRNAs) constitute a large, yet mostly uncharacterized fraction of
the mammalian transcriptome. Such characterization requires a comprehensive, high-quality …
the mammalian transcriptome. Such characterization requires a comprehensive, high-quality …