User profiles for "author:Guerra-Assunção JA"

José Afonso Guerra-Assunção

Erasmus MC, Rotterdam, Netherlands
Verified email at erasmusmc.nl
Cited by 13502

The zebrafish reference genome sequence and its relationship to the human genome

K Howe, MD Clark, CF Torroja, J Torrance, C Berthelot… - Nature, 2013 - nature.com
Zebrafish have become a popular organism for the study of vertebrate gene function,. The
virtually transparent embryos of this species, and the ability to accelerate genetic studies by …

Large-scale whole genome sequencing of M. tuberculosis provides insights into transmission in a high prevalence area

JA Guerra-Assunção, AC Crampin, R Houben… - elife, 2015 - elifesciences.org
To improve understanding of the factors influencing tuberculosis transmission and the role of
pathogen variation, we sequenced all available specimens from patients diagnosed over 15 …

Mouse genomic variation and its effect on phenotypes and gene regulation

TM Keane, L Goodstadt, P Danecek, MA White… - Nature, 2011 - nature.com
We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten
times more variants than previously known. We use these genomes to explore the …

Recurrence due to Relapse or Reinfection With Mycobacterium tuberculosis: A Whole-Genome Sequencing Approach in a Large, Population-Based Cohort With a …

JA Guerra-Assunção, RMGJ Houben… - The Journal of …, 2015 - academic.oup.com
Background. Recurrent tuberculosis is a major health burden and may be due to relapse
with the original strain or reinfection with a new strain. Methods. In a population-based study …

The BioMart community portal: an innovative alternative to large, centralized data repositories

D Smedley, S Haider, S Durinck, L Pandini… - Nucleic acids …, 2015 - academic.oup.com
Abstract The BioMart Community Portal (www. biomart. org) is a community-driven effort to
provide a unified interface to biomedical databases that are distributed worldwide. The …

Meta-analysis of tumor-and T cell-intrinsic mechanisms of sensitization to checkpoint inhibition

K Litchfield, JL Reading, C Puttick, K Thakkar… - Cell, 2021 - cell.com
Checkpoint inhibitors (CPIs) augment adaptive immunity. Systematic pan-tumor analyses
may reveal the relative importance of tumor-cell-intrinsic and microenvironmental features …

A robust SNP barcode for typing Mycobacterium tuberculosis complex strains

F Coll, R McNerney, JA Guerra-Assunção… - Nature …, 2014 - nature.com
Strain-specific genomic diversity in the Mycobacterium tuberculosis complex (MTBC) is an
important factor in pathogenesis that may affect virulence, transmissibility, host response …

Rapid determination of anti-tuberculosis drug resistance from whole-genome sequences

F Coll, R McNerney, MD Preston… - Genome medicine, 2015 - Springer
Mycobacterium tuberculosis drug resistance (DR) challenges effective tuberculosis disease
control. Current molecular tests examine limited numbers of mutations, and although whole …

Genomic investigations of unexplained acute hepatitis in children

S Morfopoulou, S Buddle, OE Torres Montaguth… - Nature, 2023 - nature.com
Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis
in children have been reported worldwide, including 278 cases in the UK. Here we report an …

Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma

J Okosun, RL Wolfson, J Wang, S Araf, L Wilkins… - Nature …, 2016 - nature.com
Follicular lymphoma is an incurable B cell malignancy characterized by the t (14; 18)
translocation and mutations affecting the epigenome,. Although frequent gene mutations in …