Concept

Prenatal testing

Related publications (70)

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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

Formation of carbonyl compounds during ozonation of lake water and wastewater: Development of a non-target screening method and quantification of target compounds

Urs von Gunten, Joanna Maria Houska

Ozonation of natural waters is typically associated with the formation of carbonyl compounds (aldehydes, ketones and ketoacids), a main class of organic disinfection byproducts (DBPs). However, the detection of carbonyl compounds in water and wastewater is ...

PERGAMON-ELSEVIER SCIENCE LTD2023

Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort

Jacques Fellay, Christian Axel Wandall Thorball

Type 2 diabetes mellitus (T2DM) can be multifactorial where both genetics and environmental factors play a role. We aimed to investigate the use of polygenic risk scores (PRS) in the prediction of pre-transplant T2DM and post-transplant diabetes mellitus ( ...

Lausanne2023

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

Massive molecular testing for COVID-19 has been pointed out as fundamental to moderate the spread of the pandemic. Pooling methods can enhance testing efficiency, but they are viable only at low incidences of the disease. We propose Smart Pooling, a machin ...

NATURE PORTFOLIO2022

Harvesting the fragment-based nature of bifunctional organocatalysts to enhance their activity

Rubén Laplaza Solanas, Simone Gallarati

Bifunctional hydrogen-bond donors/amines are commonly encountered organocatalysts in asymmetric synthesis. Existing computational tools do not take full advantage of their modularity to suggest tailored designs because they generally rely on evaluating the ...

ROYAL SOC CHEMISTRY2022

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RILEM TC 267-TRM is studying tests for the reactivity supplementary cementitious materials (SCMs). In the first phase, the lime reactivity (LR) test, which is standardised in Indian standard (IS)-1727, gave promising correlations with 90-days cement mortar ...

SPRINGER2022

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Prenatal experience and transgenerational influences are increasingly recognized as critical for defining the socio-emotional system, through the development of social competences and of their underlying neural circuitries. Here, we used an established rat ...

2021

Group testing for connected communities

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

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

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