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

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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 ...

San Francisco2022

Towards mouse genetic-specific RNA-sequencing read mapping

Maxime Jan, Ioannis Xenarios

Genetic variations affect behavior and cause disease but understanding how these variants drive complex traits is still an open question. A common approach is to link the genetic variants to intermediate molecular phenotypes such as the transcriptome using ...

2022

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Vibrio cholerae is a well-studied human pathogen that is also a common inhabitant of marine habitats. In both environments, the bacterium is subject to interbacterial competition. A molecular nanomachine that is often involved in such competitive behavior ...

2022

Over the last decade, genome-wide association studies led to major advances in identifying human genetic variants associated with infectious disease susceptibility. On the pathogen side, comparable methods are now applied to identify disease-modulating pat ...

SPRINGER2020

In 2020, EPFL Library conducted a study about Tools and Metadata Standards practice in EPFL School of Life Sciences. By standard, we mean: - terminological resources (vocabularies, terminologies, classifications, thesauri), - formats and data models / sche ...

2020

Genome-wide variation in nucleotides and retrotransposons in alpine populations of Arabis alpina (Brassicaceae)

Stéphane Joost, Aude Rogivue

Advances in high‐throughput sequencing have promoted the collection of reference genomes and genome‐wide diversity. However, the assessment of genomic variation among populations has hitherto mainly been surveyed through single‐nucleotide polymorphisms (SN ...

2019

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Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...

2019

Evolution can be described as the change of allele frequencies over time. Four forces - mutation, migration, genetic drift, and selection, drive this change. The aim of my thesis was to accurately estimate and differentiate the parameters governing each of ...

EPFL2018

Visual masking deficits in schizophrenia: A view into the genetics of the disease through an endophenotype

Michael Herzog, Jacques Fellay, Maya Roinishvili, Flavia Aurelia Shoko Hodel

Schizophrenia is a chronic disorder determined by a complex mix of genetic and environmental factors. To better understand the contributions of human genetic variation to schizophrenia, we performed a genome-wide association study of a validated endophenot ...

2018

HIV-1 Vpr and p21 restrict LINE-1 mobility

Didier Trono, Priscilla Turelli, Flavia Marzetta

Long interspersed element-1 (LINE-1, L1) composes ∼17% of the human genome. However, genetic interactions between L1 and human immunodeficiency virus type 1 (HIV-1) remain poorly understood. In this study, we found that HIV-1 suppresses L1 retrotranspositi ...

2018