Lista de obras -

Bayesian inference of negative and positive selection in human cancers.

artículo científico publicado en 2017

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

artículo científico publicado en 2020

Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations

artículo científico publicado en 2018

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

artículo científico publicado en 2020

Exome sequencing and the genetic basis of complex traits

artículo científico publicado en 2012

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

artículo científico publicado en 2014

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

artículo científico publicado en 2012

GWAS for quantitative resistance phenotypes in Mycobacterium tuberculosis reveals resistance genes and regulatory regions

article

Genomic variation landscape of the human gut microbiome

artículo científico publicado en 2012

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Identification of cancer driver genes based on nucleotide context

artículo científico publicado en 2020

Individuality and temporal stability of the human gut microbiome.

artículo científico publicado en 2013

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

scientific article published on 12 August 2019

Negative selection in humans and fruit flies involves synergistic epistasis.

artículo científico publicado en 2017

Patterns and rates of exonic de novo mutations in autism spectrum disorders

artículo científico publicado en 2012

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

artículo científico publicado en 2019

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

artículo científico publicado en 2019

Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

artículo científico publicado en 2012

Reply to 'Selective effects of heterozygous protein-truncating variants'

scientific article published on 01 January 2019

Searching for missing heritability: designing rare variant association studies

artículo científico publicado en 2014

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

scholarly article published 25 June 2018

The landscape of tolerated genetic variation in humans and primates

Widespread macromolecular interaction perturbations in human genetic disorders

scientific journal article

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

artículo científico publicado en 2015

Lista de obras de

Bayesian inference of negative and positive selection in human cancers.

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Exome sequencing and the genetic basis of complex traits

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

GWAS for quantitative resistance phenotypes in Mycobacterium tuberculosis reveals resistance genes and regulatory regions

Genomic variation landscape of the human gut microbiome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Identification of cancer driver genes based on nucleotide context

Individuality and temporal stability of the human gut microbiome.

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

Negative selection in humans and fruit flies involves synergistic epistasis.

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

Reply to 'Selective effects of heterozygous protein-truncating variants'

Searching for missing heritability: designing rare variant association studies

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

The landscape of tolerated genetic variation in humans and primates

Widespread macromolecular interaction perturbations in human genetic disorders

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases