List of works - Arcadi Navarro

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

scientific article

A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0).

scientific article published on 30 October 2017

A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells

scientific article published on 26 February 2020

A burst of segmental duplications in the genome of the African great ape ancestor

scientific article published on February 2009

A global catalog of whole-genome diversity from 233 primate species

Accelerated exon evolution within primate segmental duplications.

scientific article published on 29 January 2013

Accumulating postzygotic isolation genes in parapatry: a new twist on chromosomal speciation

scientific article

Allele-specific gene expression is widespread across the genome and biological processes

scientific article

Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements

scientific article

Antagonistic pleiotropy and mutation accumulation influence human senescence and disease

scientific article published on 30 January 2017

Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk

scientific article

Assessing statistical significance in multivariable genome wide association analysis

scientific article published on 07 March 2016

Author Correction: Comparative and demographic analysis of orang-utan genomes

correction of a scholarly article

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

scientific article published on 17 March 2022

Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

scientific article published on 19 December 2011

Comparative and demographic analysis of orang-utan genomes

scientific article

Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs ⬇️

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

scientific article

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.

scientific article

Demographic History of the Genus Pan Inferred from Whole Mitochondrial Genome Reconstructions

scientific article published on 26 June 2016

Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

scientific article

Differences in molecular evolutionary rates among microRNAs in the human and chimpanzee genomes

scientific article

Dynamics of DNA methylation in recent human and great ape evolution

scientific article

Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures

scientific article

Erratum: A burst of segmental duplications in the genome of the African great ape ancestor

scientific article published in Nature

Evolutionary History, Genomic Adaptation to Toxic Diet, and Extinction of the Carolina Parakeet

scientific article published on 12 December 2019

Evolutionary constraint and innovation across hundreds of placental mammals

scientific article published on 28 April 2023

Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations

scientific article published on 19 May 2020

Frequent appearance of novel protein-coding sequences by frameshift translation

scientific article

Functional Implications of Human-Specific Changes in Great Ape microRNAs

scientific article

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

scientific article published on 10 November 2021

Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis

scientific article

Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples.

scientific article

Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis

scientific article

Genoeconomics: promises and caveats for a new field

scientific article

Genome-wide analysis of wild-type Epstein-Barr virus genomes derived from healthy individuals of the 1,000 Genomes Project

scientific article

Genome-wide association studies pipeline (GWASpi): a desktop application for genome-wide SNP analysis and management

scientific article

Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France

scientific article

Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22.

scientific article

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

scientific article

Great ape genetic diversity and population history

scientific article published on 03 July 2013

HeT-A_pi1, a piRNA target sequence in the Drosophila telomeric retrotransposon HeT-A, is extremely conserved across copies and species

scientific article

High trans-ethnic replicability of GWAS results implies common causal variants.

scientific article

IL28B polymorphisms are not associated with the response to interferon-β in multiple sclerosis

scientific article published on 01 September 2011

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

scientific article published on 17 November 2012

Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms

scientific article

Insights into mammalian TE diversity through the curation of 248 genome assemblies ⬇️

Integrating gene annotation with orthology inference at scale ⬇️

scientific article published on 28 April 2023

Interoperability with Moby 1.0--it's better than sharing your toothbrush!

scientific article

Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario

scientific article

Mutation distribution density in tumors reconstructs human’s lost diversity

Natural Selection in the Great Apes

scientific article

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

scientific article

Patterns and rates of intron divergence between humans and chimpanzees

scientific article published on January 2007

Pharmacogenomic study in patients with multiple sclerosis: Responders and nonresponders to IFN-β.

scientific article

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology

scientific article

Recent human evolution has shaped geographical differences in susceptibility to disease

scientific article

Reply to: Retesting the influences of mutation accumulation and antagonistic pleiotropy on human senescence and disease

scientific article published on 24 June 2019

SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data

scientific article

Selection upon genome architecture: conservation of functional neighborhoods with changing genes

scientific article

Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencing

scientific article published on 19 December 2017

Similarity in recombination rate estimates highly correlates with genetic differentiation in humans

scientific article

Statistical power analysis of neutrality tests under demographic expansions, contractions and bottlenecks with recombination.

scientific article published on May 2008

The European Genome-phenome Archive of human data consented for biomedical research.

scientific article

The contribution of historical processes to contemporary extinction risk in placental mammals ⬇️

The functional and evolutionary impacts of human-specific deletions in conserved elements ⬇️

The genome of melon (Cucumis melo L.).

scientific article

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

scientific article

The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements

scientific article

The landscape of tolerated genetic variation in humans and primates

The prion protein gene in humans revisited: lessons from a worldwide resequencing study

scientific article

Three-dimensional genome rewiring in loci with human accelerated regions ⬇️

scientific article published on 28 April 2023

List of works by Arcadi Navarro

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0).

A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells

A burst of segmental duplications in the genome of the African great ape ancestor

A global catalog of whole-genome diversity from 233 primate species

Accelerated exon evolution within primate segmental duplications.

Accumulating postzygotic isolation genes in parapatry: a new twist on chromosomal speciation

Allele-specific gene expression is widespread across the genome and biological processes

Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements

Antagonistic pleiotropy and mutation accumulation influence human senescence and disease

Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk

Assessing statistical significance in multivariable genome wide association analysis

Author Correction: Comparative and demographic analysis of orang-utan genomes

Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond

Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

Comparative and demographic analysis of orang-utan genomes

Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs ⬇️

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.

Demographic History of the Genus Pan Inferred from Whole Mitochondrial Genome Reconstructions

Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

Differences in molecular evolutionary rates among microRNAs in the human and chimpanzee genomes

Dynamics of DNA methylation in recent human and great ape evolution

Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures

Erratum: A burst of segmental duplications in the genome of the African great ape ancestor

Evolutionary History, Genomic Adaptation to Toxic Diet, and Extinction of the Carolina Parakeet

Evolutionary constraint and innovation across hundreds of placental mammals

Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations

Frequent appearance of novel protein-coding sequences by frameshift translation

Functional Implications of Human-Specific Changes in Great Ape microRNAs

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

Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis

Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples.

Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis

Genoeconomics: promises and caveats for a new field

Genome-wide analysis of wild-type Epstein-Barr virus genomes derived from healthy individuals of the 1,000 Genomes Project

Genome-wide association studies pipeline (GWASpi): a desktop application for genome-wide SNP analysis and management

Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France

Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22.

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Great ape genetic diversity and population history

HeT-A_pi1, a piRNA target sequence in the Drosophila telomeric retrotransposon HeT-A, is extremely conserved across copies and species

High trans-ethnic replicability of GWAS results implies common causal variants.

IL28B polymorphisms are not associated with the response to interferon-β in multiple sclerosis

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms

Insights into mammalian TE diversity through the curation of 248 genome assemblies ⬇️

Integrating gene annotation with orthology inference at scale ⬇️

Interoperability with Moby 1.0--it's better than sharing your toothbrush!

Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario

Mutation distribution density in tumors reconstructs human’s lost diversity

Natural Selection in the Great Apes

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

Patterns and rates of intron divergence between humans and chimpanzees

Pharmacogenomic study in patients with multiple sclerosis: Responders and nonresponders to IFN-β.

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology

Recent human evolution has shaped geographical differences in susceptibility to disease

Reply to: Retesting the influences of mutation accumulation and antagonistic pleiotropy on human senescence and disease

SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data

Selection upon genome architecture: conservation of functional neighborhoods with changing genes

Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencing

Similarity in recombination rate estimates highly correlates with genetic differentiation in humans

Statistical power analysis of neutrality tests under demographic expansions, contractions and bottlenecks with recombination.

The European Genome-phenome Archive of human data consented for biomedical research.

The contribution of historical processes to contemporary extinction risk in placental mammals ⬇️

The functional and evolutionary impacts of human-specific deletions in conserved elements ⬇️

The genome of melon (Cucumis melo L.).

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements

The landscape of tolerated genetic variation in humans and primates

The prion protein gene in humans revisited: lessons from a worldwide resequencing study

Three-dimensional genome rewiring in loci with human accelerated regions ⬇️