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Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood

Publications associées (34)

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Community-Aware Group Testing

Pavlos Nikolopoulos, Christina Fragouli, Suhas Diggavi, Sundara Rajan Srinivasavaradhan

Group testing is a technique that can reduce the number of tests needed to identify infected members in a population, by pooling together multiple diagnostic samples. Despite the variety and importance of prior results, traditional work on group testing ha ...

IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC2023

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Valeriia Timonina, Konstantin Popadin

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...

MDPI2023

Interlaboratory Test Program to Determine the Precision of the R3 Test Method (ASTM C1897-20) for Measuring Reactivity of Supplementary Cementitious Materials

Karen Scrivener, Ruben Anton Snellings, Diana Londoño Zuluaga

The substitution of portland clinker by supplementary cementitious materials (SCMs) is one of the main avenues for the further decarbonization of cement production. To secure future SCM supplies, generic and performance-related test methods for SCMs are re ...

AMER SOC TESTING MATERIALS2022

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In this paper, we propose algorithms that leverage a known community structure to make group testing more efficient. We consider a population organized in disjoint communities: each individual participates in a community, and its infection probability depe ...

MICROTOME PUBLISHING2021

Overweight and obesity are increasingly common public health issues worldwide, leading to a wide range of diseases from metabolic syndrome to steatohepatitis and cardiovascular diseases. While the increase in the prevalence of obesity is partly attributabl ...

EPFL2021

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Overview Cough audio signal classification has been successfully used to diagnose a variety of respiratory conditions, and there has been significant interest in leveraging Machine Learning (ML) to provide widespread COVID-19 screening. Th ...

EPFL Infoscience2021

Wannier90 as a community code: new features and applications

Nicola Marzari, Giovanni Pizzi, Marco Gibertini, Antimo Marrazzo, Hyungjun Lee, Junfeng Qiao, Samuel Poncé, Lorenzo Paulatto, Daniel John Gilles Marchand

Wannier90 is an open-source computer program for calculating maximally-localised Wannier functions (MLWFs) from a set of Bloch states. It is interfaced to many widely used electronic-structure codes thanks to its independence from the basis sets representi ...

2020

Targeted Perturb-seq enables genome-scale genetic screens in single cells

Christoph Merten

The transcriptome contains rich information on molecular, cellular and organismal phenotypes. However, experimental and statistical limitations constrain sensitivity and throughput of genetic screening with single-cell transcriptomics readout. To overcome ...

2020

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

Food is a critical global resource that impacts all 17 of the UN Sustainable Development Goals, and a huge contributor to both problems (climate, environment, health) and solutions. The Food Action project engaged 5 countries in developing and testing a pr ...

Paul Scherrer Institute, World Resources Forum2019