Concept

Single-nucleotide polymorphism

Related publications (253)

Multi-well plate lid for single-step pooling of 96 samples for high-throughput barcode-based sequencing

Bart Deplancke, Daniel Migliozzi, Gilles Weder, Riccardo Dainese, Daniel Alpern, Hüseyin Baris Atakan, Mustafa Demir, Dariia Gudkova

High-throughput transcriptomics is of increasing fundamental biological and clinical interest. The generation of molecular data from large collections of samples, such as biobanks and drug libraries, is boosting the development of new biomarkers and treatm ...

Dordrecht2024

Hierarchical Protofilament Intertwining Rules the Formation of Mixed-Curvature Amyloid Polymorphs

Giovanni Dietler, Henning Paul-Julius Stahlberg, Meltem Tatli, Francesco Simone Ruggeri, Jiangtao Zhou, Salvatore Assenza, Raffaele Mezzenga

Amyloid polymorphism is a hallmark of almost all amyloid species, yet the mechanisms underlying the formation of amyloid polymorphs and their complex architectures remain elusive. Commonly, two main mesoscopic topologies are found in amyloid polymorphs cha ...

Wiley2024

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Nicolas Jean Philippe Guex

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...

2023

Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive

Konstantin Popadin

The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...

London2023

The HLA-B*57:01 allele corresponds to a very large MHC haploblock likely explaining its massive effect for HIV-1 elite control

Jacques Fellay

Introduction: We have reanalyzed the genomic data of the International Collaboration for the Genomics of HIV (ICGH), centering on HIV-1 Elite Controllers.Methods: We performed a genome-wide Association Study comparing 543 HIV Elite Controllers with 3,272 u ...

Lausanne2023

A single nucleotide polymorphism determines constitutive versus inducible type VI secretion in Vibrio cholerae

Melanie Blokesch, Sandrine Stutzmann, Alexis Joseph Proutière, Loriane Bader, Milena Jadwiga Jaskolska

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

Single nucleotide polymorphism determines constitutive versus inducible type VI secretion in Vibrio cholerae

Melanie Blokesch, Sandrine Stutzmann, Alexis Joseph Proutière, Loriane Bader, Natalia Carolina Drebes Dorr, Milena Jadwiga Jaskolska

2022

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 ...

San Francisco2022

Secure and Federated Genome-Wide Association Studies for Biobank-Scale Datasets

Jean-Pierre Hubaux, Juan Ramón Troncoso-Pastoriza, Apostolos Pyrgelis, Jeffrey Chen, David Jules Froelicher

Sharing data across multiple institutions for genome-wide association studies (GWAS) would enable discovery of novel genetic variants linked to health and disease. However, existing regulations on genomic data sharing and the sheer size of the data limit t ...

2022

RNA sequencing-based single sample predictors of molecular subtype and risk of recurrence for clinical assessment of early-stage breast cancer

Cathrin Brisken, Ayyakkannu Ayyanan, Rachel Marcone

Multigene assays for molecular subtypes and biomarkers can aid management of early invasive breast cancer. Using RNA-sequencing we aimed to develop single-sample predictor (SSP) models for clinical markers, subtypes, and risk of recurrence (ROR). A cohort ...

NATURE PORTFOLIO2022

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