Welcome to the UPF Digital Repository

Browsing Recerca: articles, congressos, llibres by Subject "DNA sequencing"

Browsing Recerca: articles, congressos, llibres by Subject "DNA sequencing"

Sort by: Order: Results:

  • A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
    Alioto, Tyler; Derdak, Sophia; Ribeca, Paolo; Castro Giner, Francesc; Beltran, Sergi; Raineri, Emanuele; Dabad, Marc; Heath, Simon C.; Gut, Marta; Gut, Ivo Glynne (Nature Research, 2015)
    As whole-genome sequencing for cancer genome analysis becomes a clinical tool, a full understanding of the variables affecting sequencing analysis output is required. Here using tumour-normal sample pairs from two different ...
  • A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
    Keraite, Ieva; Becker, Philipp; Canevazzi, Davide; Frias-López, Cristina; Dabad, Marc; Tonda, Raúl; Paramonov, Ida; Ingham, Matthew; Brun-Heath, Isabelle; Leno, Jordi; Abulí, Anna; García-Arumí, Elena; Heath, Simon; Gut, Marta; Gut, Ivo Glynne (Nature Research, 2022)
    Methods to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read sequencing come with an inherent bias due to amplification and mapping. They can fail to determine the phase of variants, to capture multiple ...
  • Framework for quality assessment of whole genome cancer sequences
    Whalley, Justin P.; Stobbe, Miranda D.; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Gut, Ivo Glynne (Nature Research, 2020)
    Bringing together cancer genomes from different projects increases power and allows the investigation of pan-cancer, molecular mechanisms. However, working with whole genomes sequenced over several years in different ...
  • Somatic mosaicism reveals clonal distributions of neocortical development
    Breuss, Martin W.; NIMH Brain Somatic Mosaicism Network; Gleeson, Joseph G. (Nature Research, 2022)
    The structure of the human neocortex underlies species-specific traits and reflects intricate developmental programs. Here we sought to reconstruct processes that occur during early development by sampling adult human ...
  • Systematic benchmarking of tools for CpG methylation detection from nanopore sequencing
    Yuen, Zaka Wing-Sze; Srivastava, Akanksha; Daniel, Runa; McNevin, Dennis; Jack, Cameron; Eyras Jiménez, Eduardo (Nature Research, 2021)
    DNA methylation plays a fundamental role in the control of gene expression and genome integrity. Although there are multiple tools that enable its detection from Nanopore sequencing, their accuracy remains largely unknown. ...
  • The impact of rare variation on gene expression across tissues
    Li, Xin; Guigó Serra, Roderic; Montgomery, Stephen B.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, ...
  • The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
    Rodin, Rachel E.; Brain Somatic Mosaicism Network; Walsh, Christopher A. (Nature Research, 2021)
    We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder ...

Search DSpace


Advanced Search

Browse

My Account

Compliant to Partaking