Publications associées à HapMap

In Operando, Photovoltaic, and Microscopic Evaluation of Recombination Centers in Halide Perovskite-Based Solar Cells

Ulf Anders Hagfeldt, Henry Snaith, Silver Hamill Turren Cruz

The origin of the low densities of electrically active defects in Pb halide perovskite (HaP), a crucial factor for their use in photovoltaics, light emission, and radiation detection, remains a matter of discussion, in part because of the difficulty in det ...

AMER CHEMICAL SOC2022

Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations

Jacques Fellay, Zhi Ming Xu, Sina Rüeger

Genome-wide association studies rely on the statistical inference of untyped variants, called imputation, to increase the coverage of genotyping arrays. However, the results are often suboptimal in populations underrepresented in existing reference panels ...

Public Library Science2022

Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation

Jean-Pierre Hubaux, Juan Ramón Troncoso-Pastoriza, David Jules Froelicher, Jean-Philippe Léonard Bossuat, Yiping Ma

Genotype imputation is a fundamental step in genomic data analysis, where missing variant genotypes are predicted using the existing genotypes of nearby "tag"variants. Although researchers can outsource genotype imputation, privacy concerns may prohibit ge ...

CELL PRESS2021

Combining genotype, phenotype and environment to infer potential candidate genes: An example using the Loblolly pine (Pinus taeda)

Stéphane Joost

Population genomic analyses can be an important tool in understanding local adaptation. Identification of potential adaptive loci in such analyses is usually based on the survey of a large genomic dataset in combination with environmental variables. Phenot ...

Oxford University Press2017

Host genetic predictors of the kynurenine pathway of tryptophan catabolism among treated HIV-infected Ugandans

Yunfei Huang

Objective: Plasma kynurenine/tryptophan ratio, a biomarker of indoleamine 2,3-dioxygenase-1 (IDO) activity, is a strong independent predictor of mortality in HIV-infected Ugandans initiating antiretroviral therapy (ART) and may play a key role in HIV patho ...

Lippincott Williams & Wilkins2016

SNP2TFBS - a database of regulatory SNPs affecting predicted transcription factor binding site affinity

Giovanna Ambrosini, Philipp Bucher, Sunil Kumar

SNP2TFBS is a computational resource intended to support researchers investigating the molecular mechanisms underlying regulatory variation in the human genome. The database essentially consists of a collection of text files providing specific annotations ...

Oxford University Press2016

Genome-Wide Ultrabithorax Binding Analysis Reveals Highly Targeted Genomic Loci at Developmental Regulators and a Potential Connection to Polycomb-Mediated Regulation

Antonio Carlos Alves Meireles Filho

Hox homeodomain transcription factors are key regulators of animal development. They specify the identity of segments along the anterior-posterior body axis in metazoans by controlling the expression of diverse downstream targets, including transcription f ...

Public Library of Science2016

On Detecting Incomplete Soft or Hard Selective Sweeps Using Haplotype Structure

Anna Ferrer Admetlla

We present a new haplotype-based statistic (nS(L)) for detecting both soft and hard sweeps in population genomic data from a single population. We compare our new method with classic single-population haplotype and site frequency spectrum (SFS)-based metho ...

Oxford Univ Press2014

Widespread Signals of Convergent Adaptation to High Altitude in Asia and America

Matthieu Foll

Living at high altitude is one of the most difficult challenges that humans had to cope with during their evolution. Whereas several genomic studies have revealed some of the genetic bases of adaptations in Tibetan, Andean, and Ethiopian populations, relat ...

Cell Press2014

A systems approach to elucidate the genetic architecture of molecular phenotypes

Sebastian Martin Waszak

A growing body of evidence suggests that changes in gene regulatory DNA are the major genetic determinants of variation in complex phenotypes; however, the underlying genes as well as cascades of intermediate molecular events remain in most cases elusive. ...

EPFL2014

Rounding Up Natural Gene Expression Variation during Development

Bart Deplancke, Sebastian Martin Waszak

Molecular insights into the genetic control of development have been mainly derived from single gene mutant studies. Francesconi and Lehner (2013) report now in Nature a genome-wide map of natural sequence variants that affect the temporal expression dynam ...

Cell Press - Elsevier2013

Association Study of Common Genetic Variants and HIV-1 Acquisition in 6,300 Infected Cases and 7,200 Controls

Jacques Fellay, Amalio Telenti, Paul Jack Mc Laren

Multiple genome-wide association studies (GWAS) have been performed in HIV-1 infected individuals, identifying common genetic influences on viral control and disease course. Similarly, common genetic correlates of acquisition of HIV-1 after exposure have b ...

Public Library Science2013

A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A

Jacques Fellay, Amalio Telenti, Paul Jack Mc Laren

Human genetic variation contributes to differences in susceptibility to HIV-1 infection. To search for novel host resistance factors, we performed a genome-wide association study (GWAS) in hemophilia patients highly exposed to potentially contaminated fact ...

Oxford University Press2013

Personal receptor repertoires: olfaction as a model

Sebastian Martin Waszak

Background: Information on nucleotide diversity along completely sequenced human genomes has increased tremendously over the last few years. This makes it possible to reassess the diversity status of distinct receptor proteins in different human individual ...

BioMed Central2012

Resequencing 50 accessions of cultivated and wild rice yields markers for identifying agronomically important genes

Jeffrey David Jensen, Lei Huang, Xun Xu, Jian Wang, Xin Liu, Jun Wang, Wen Wang, Chang Yu

Rice is a staple crop that has undergone substantial phenotypic and physiological changes during domestication. Here we resequenced the genomes of 40 cultivated accessions selected from the major groups of rice and 10 accessions of their wild progenitors ( ...

Nature Publishing Group2012

Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease

Jörg Hager

Genome wide association studies (GWAS) and their replications that have associated DNA variants with myocardial infarction (MI) and/or coronary artery disease (CAD) are predominantly based on populations of European or Eastern Asian descent. Replication of ...

Public Library of Science2011

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis

Evaluation of transcriptional changes in the striatum may be an effective approach to understanding the natural history of changes in expression contributing to the pathogenesis of Huntington disease (HD). We have performed genome-wide expression profiling ...

Oxford University Press2010

Visual backward masking deficits in schizophrenic patients are associated with polymorphisms in the nicotinic receptor α7 subunit gene (CHRNA7)

Michael Herzog, Maya Roinishvili

Visual backward masking (BM) deficits are often proposed to be trait markers for schizophrenia revealing the genetic underpinnings of the disease. Here, we show that, indeed, masking deficits in the shine-through effect are associated with polymorphisms in ...

2010