List of works - David Torrents

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

scientific article

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A functional IFN-λ4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma

scientific article

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

scientific article

A genome-wide survey of human pseudogenes

scientific article

Adaptation to environmental factors shapes the organization of regulatory regions in microbial communities

scientific article published on 08 October 2014

Altered Circulating miRNA Expression Profile in Pregestational and Gestational Obesity.

scientific article published on 25 September 2015

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

scientific article published on 01 September 2018

BLAST2GENE: a comprehensive conversion of BLAST output into independent genes and gene fragments

scientific article published on 22 March 2004

BLUEPRINT to decode the epigenetic signature written in blood.

scientific article

Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK.

scientific article published on April 2003

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

scientific article published on 11 December 2018

Common genetic variants of surfactant protein-D (SP-D) are associated with type 2 diabetes

scientific article

Comparative analysis of neutrophil and monocyte epigenomes

Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster

scientific article (publication date: 4 October 2002)

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

scientific article

DNAlive: a tool for the physical analysis of DNA at the genomic scale

scientific article

Determining promoter location based on DNA structure first-principles calculations

scientific article

Dysregulation of Placental miRNA in Maternal Obesity Is Associated With Pre- and Postnatal Growth

scientific article published on 20 March 2017

Enterotypes of the human gut microbiome

scientific article

Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer.

scientific article published on 26 January 2016

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

scientific article

Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters

scientific article published on 6 March 2007

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

scientific article published on 01 March 2022

Generation and annotation of the DNA sequences of human chromosomes 2 and 4

scientific article

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

scholarly article by Johannes Waage et al published August 2018 in Nature Genetics

Genome-wide associations for birth weight and correlations with adult disease

scientific article

Genomics of ecological adaptation in cactophilic Drosophila.

scientific article

Identification and analysis of genes and pseudogenes within duplicated regions in the human and mouse genomes

scientific article

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

scientific article

Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution

scientific journal article

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

scientific article published in March 1999

Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids

scientific article

Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems

scientific article

Impact of methylation on the physical properties of DNA.

scientific article published on May 2012

Initial sequencing and comparative analysis of the mouse genome

scientific article

Is There Selection for the Pace of Successive Inactivation of the arpAT Gene in Primates?

article

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

scientific article published on 01 May 2019

Metformin alters the gut microbiome of individuals with treatment-naive type 2 diabetes, contributing to the therapeutic effects of the drug

scientific article

Non-coding recurrent mutations in chronic lymphocytic leukaemia

scientific article published in Nature

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

scientific article

PAL2NAL: robust conversion of protein sequence alignments into the corresponding codon alignments

scientific article (publication date: July 2006)

PGBD5 promotes site-specific oncogenic mutations in human tumors

scientific article published on 15 May 2017

Projection structure of a member of the amino acid/polyamine/organocation transporter superfamily

scientific article published on 25 September 2008

Protein coding potential of retroviruses and other transposable elements in vertebrate genomes

scientific article

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

scientific article published on 30 May 2018

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

scientific article

ReLA, a local alignment search tool for the identification of distal and proximal gene regulatory regions and their conserved transcription factor binding sites.

scientific article published on 16 January 2012

Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes

scientific article published on 01 March 2022

Selective maintenance of Drosophila tandemly arranged duplicated genes during evolution

scientific article published on 16 December 2008

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

scientific article

Sequential amino acid exchange across b(0,+)-like system in chicken brush border jejunum.

scientific article

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease

scientific article published in January 2014

Surgery-Induced Weight Loss Is Associated With the Downregulation of Genes Targeted by MicroRNAs in Adipose Tissue.

scientific article published on 7 August 2015

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

scientific article published on 01 October 2021

The BLUEPRINT Data Analysis Portal.

scientific article

The DNA sequence of human chromosome 7

scientific article

The human genome: genes, pseudogenes, and variation on chromosome 7.

scientific article published in January 2003

The molecular basis of cystinuria: the role of the rBAT gene

scientific article published in June 1996

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

scientific article published on 21 May 2018

Tuning fresh: radiation through rewiring of central metabolism in streamlined bacteria

scientific article published on 19 January 2016

Unravelling the hidden DNA structural/physical code provides novel insights on promoter location

scientific article published on 12 June 2013

List of works by David Torrents

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

A functional IFN-λ4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

A genome-wide survey of human pseudogenes

Adaptation to environmental factors shapes the organization of regulatory regions in microbial communities

Altered Circulating miRNA Expression Profile in Pregestational and Gestational Obesity.

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

BLAST2GENE: a comprehensive conversion of BLAST output into independent genes and gene fragments

BLUEPRINT to decode the epigenetic signature written in blood.

Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK.

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

Common genetic variants of surfactant protein-D (SP-D) are associated with type 2 diabetes

Comparative analysis of neutrophil and monocyte epigenomes

Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

DNAlive: a tool for the physical analysis of DNA at the genomic scale

Determining promoter location based on DNA structure first-principles calculations

Dysregulation of Placental miRNA in Maternal Obesity Is Associated With Pre- and Postnatal Growth

Enterotypes of the human gut microbiome

Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer.

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters

GA4GH: International policies and standards for data sharing across genomic research and healthcare

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Generation and annotation of the DNA sequences of human chromosomes 2 and 4

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

Genome-wide associations for birth weight and correlations with adult disease

Genomics of ecological adaptation in cactophilic Drosophila.

Identification and analysis of genes and pseudogenes within duplicated regions in the human and mouse genomes

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids

Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems

Impact of methylation on the physical properties of DNA.

Initial sequencing and comparative analysis of the mouse genome

Is There Selection for the Pace of Successive Inactivation of the arpAT Gene in Primates?

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Metformin alters the gut microbiome of individuals with treatment-naive type 2 diabetes, contributing to the therapeutic effects of the drug

Non-coding recurrent mutations in chronic lymphocytic leukaemia

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

PAL2NAL: robust conversion of protein sequence alignments into the corresponding codon alignments

PGBD5 promotes site-specific oncogenic mutations in human tumors

Projection structure of a member of the amino acid/polyamine/organocation transporter superfamily

Protein coding potential of retroviruses and other transposable elements in vertebrate genomes

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

ReLA, a local alignment search tool for the identification of distal and proximal gene regulatory regions and their conserved transcription factor binding sites.

Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes

Selective maintenance of Drosophila tandemly arranged duplicated genes during evolution

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Sequential amino acid exchange across b(0,+)-like system in chicken brush border jejunum.

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease

Surgery-Induced Weight Loss Is Associated With the Downregulation of Genes Targeted by MicroRNAs in Adipose Tissue.

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

The BLUEPRINT Data Analysis Portal.

The DNA sequence of human chromosome 7

The human genome: genes, pseudogenes, and variation on chromosome 7.

The molecular basis of cystinuria: the role of the rBAT gene

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

Tuning fresh: radiation through rewiring of central metabolism in streamlined bacteria

Unravelling the hidden DNA structural/physical code provides novel insights on promoter location