Results 41 to 50 of about 2,137 (173)

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies

Frontiers in Genetics, 2023
Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1),
Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li   +6 more
doaj   +1 more source

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia

The Journal of Pathology, EarlyView.
Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard‐Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár   +21 more
wiley   +1 more source

Jurados ciudadanos y organismos genéticamente modificados

Revista Internacional de Sociología, 2005
Una sociología política de la alimentación debe analizar los procesos a través de los cuales se alcanzan las decisiones de regulación y control alimentario y examinar el potencial de sus alternativas.
Emilio Luque
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Optical Genome Mapping ( OGM) : Looking beyond karyotyping

Asian Journal of Medical Sciences
Optical genome mapping (OGM) is an advanced technology that delivers a distinct view of genome structure. It presents numerous benefits compared to conventional sequencing techniques, as well as karyotyping in identifying large-scale structural ...
Ruby Dhar , Arun Kumar , Subhradip Karmakar   +2 more
doaj   +1 more source

PARA FORMAR JARDINEIROS PARA CUIDAR DO PLANETA

Competência, 2010
O Planeta está em crise. É preciso cuidá-lo, aceitemos ou não a hipótese Gaia de Lovelock. Parte-se da utopia que professores de qualquer nível de ensino e em qualquer área do conhecimento podem/devem em suas aulas serem formadores
Attico Chassot
doaj   +1 more source

Comment débattre des OGM ? [PDF]

Natures Sciences Sociétés, 2008
Les multiples debats autour des OGM donnent l’image d’une foire d’empoigne. Cela est tres dommageable, a la fois pour l’exercice de la democratie et pour tous les acteurs de la production agricole qui ne savent plus ou donner de la tete. L’auteur fait l’hypothese que parmi les raisons qui expliquent cette situation figure le contexte de crise dans ...
openaire   +2 more sources

Ontologies for Sustainability: Theoretical Challenges

Sustainable Development, EarlyView.
ABSTRACT The lack of sustainable practices in key sectors of human societies is a global concern, posing threats for the whole planet. This paper provides the first review of ontologies for sustainability efforts, outlining their roles in assessing and advancing such efforts. Section 2 outlines three major challenges associated with sustainability: (1)
Giorgio A. Ubbiali, Matthew C. Lange, Andrea Borghini   +2 more
wiley   +1 more source

Equity‐Calibrated Technology Forecasting for Sustainable Development: A Portable ADOPT Framework Integrating Bayesian‐Ising Diagnostics

Sustainable Development, EarlyView.
ABSTRACT Climate‐smart agriculture (CSA) is widely promoted to enhance resilience and productivity among smallholder farmers, yet its diffusion remains uneven due to structural barriers and heterogeneous adoption contexts. Existing forecasting tools, such as the Adoption and Diffusion Outcome Prediction Tool (ADOPT), estimate adoption trajectories but ...
Denis Momanyi, Jiqin Han, Job K. Lagat, Robert A. Marchant, George M. Ogendi, Hermann Lotze‐Campen, Stefan Sieber   +6 more
wiley   +1 more source

Will European Consumers and Stakeholders accept New Genomic Techniques (NGTs) in Food Production? Les consommateurs et les parties prenantes européens accepteront‐ils les nouvelles techniques génomiques (NTG) dans la production alimentaire ? Werden europäische Verbraucher und Interessengruppen neue genomische Verfahren (NGV) in der Lebensmittelproduktion akzeptieren?

EuroChoices, EarlyView.
Summary New Genomic Techniques (NGTs) can be an important tool to achieve the goals set out in the European Green Deal like food security, environmental sustainability and climate change adaptation. However, the success of NGT‐derived products in the market depends on their acceptance by consumers and stakeholders.
Jan Pokrivcak, Miroslava Rajcaniova, Ema Lazorcakova   +2 more
wiley   +1 more source