Concept

Personal genomics

Related publications (77)

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

A comprehensive stroke risk assessment by combining atrial computational fluid dynamics simulations and functional patient data

Alfio Quarteroni

Stroke, a major global health concern often rooted in cardiac dynamics, demands precise risk evaluation for targeted intervention. Current risk models, like the CHA 2 DS 2 -VASc \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepa ...

Nature Portfolio2024

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Writing high-quality procedural texts is a challenging task for many learners. While example-based learning has shown promise as a feedback approach, a limitation arises when all learners receive the same content without considering their individual input ...

2024

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PremiseA novel protocol for rapid plant DNA extraction using microneedles is proposed, which supports botanic surveys, taxonomy, and systematics. This protocol can be conducted in the field with limited laboratory skills and equipment. The protocol is vali ...

WILEY2023

Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E

Jacques Fellay

Background and Aims:The clinical spectrum of human infection by HEV ranges from asymptomatic to severe acute hepatitis. Furthermore, HEV can cause diverse neurological manifestations, especially Parsonage-Turner syndrome. Here, we used a large-scale human ...

Philadelphia2023

Inferring Transmission Fitness Advantage of SARS-CoV-2 Variants of Concern in Wastewater Using Digital PCR

Tamar Kohn, Xavier Fernandez Cassi, Timothy R. Julian

Throughout the global COVID-19 pandemic, SARS-CoV-2 genetic variants of concern (VOCs) have repeatedly and independently arisen. VOCs are characterized by increased transmissibility, increased virulence, or reduced neutralization by antibodies obtained fro ...

2022

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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

Transposable elements and their KZFP controllers are drivers of transcriptional innovation in the developing human brain

Didier Trono, Evaristo Jose Planet Letschert, Julien Léonard Duc, Alexandre Coudray, Shaoline Sheppard, Christopher James Playfoot, Sagane Dind

Transposable elements (TEs) account for more than 50% of the human genome and many have been co-opted throughout evolution to provide regulatory functions for gene expression networks. Several lines of evidence suggest that these networks are fine-tuned by ...

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT2021

Wearable multi-electrode platform for ion sensing

Francesca Criscuolo

With the growth of personalized medicine and e-Health, there has been an increasing interest in the development of accurate sensing systems able to support this healthcare revolution for both in- and off-hospital monitoring. Remote biosensing devices can d ...

EPFL2020

Structural mechanism of cGAS inhibition by the nucleosome

Rudolf Hovius, Beat Fierz, Andrea Ablasser, Baptiste Claude André Guey, Alexiane Clara Decout, Pauline Ambre Melenec, Simone Cavadini, Kristina Makasheva, Sélène-Véronique Glück

The DNA sensor cGAS initiates innate immune responses following microbial infection, cellular stress, and cancer1. Upon activation by double-stranded DNA, cytosolic cGAS produces 2’3’ cyclic GMP-AMP and triggers inflammatory cytokine and type I interferon ...

2020

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