Results 151 to 160 of about 63,140 (263)

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

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

DOM: Dual Optical Mapping Integrating Sequence‐Specific Barcodes and A/T Density Profiles

Small Methods, EarlyView.
Dual Optical Mapping (DOM) combines sequence‐specific barcodes and an A/T profile to generate complementary genomic signatures along single DNA molecules. The integration of sparse and dense mapping information enables accurate and confident genome mapping, facilitating reliable localization of long DNA molecules in complex genomes, including the ...
Jaeyoung Bae, Yunchul Kim, Joohee Choe, Jinhui Hong, Byoungsang Lee, Kaori Hashiya, Toshikazu Bando, Hiroshi Sugiyama, Seonghyun Lee, Jung Heon Lee, Kyubong Jo   +10 more
wiley   +1 more source

How We Simulate Nanopores

Small Methods, EarlyView.
Nanopore technology has revolutionized single‐molecule sensing, yet it suffers from an inherent interpretive challenge. Molecular dynamics has emerged as a go‐to method for determining the relationship between the structure of translocating molecules and the nanopore current signals.
Behzad Mehrafrooz, Xavier Mleziva, Meng Xu, Melika Shekari, Christopher Maffeo, Aleksei Aksimentiev   +5 more
wiley   +1 more source

Untreated Hair Dye Effluents Enter the Environment: Are They a Threat to Human Health?

Environmental Toxicology, EarlyView.
ABSTRACT The effluents generated during the process of hair dyeing exhibit a complex composition, comprising chemical compounds with varying toxicity levels. While the adverse impact of hair dyes on human health is acknowledged, there is a notable absence of studies addressing the toxicity associated with effluents produced during these activities. The
Letícia Cristina Gonçalves, Matheus Mantuanelli Roberto, Adriana Fabiana Corrêa da Silva, Maria Aparecida Marin‐Morales   +3 more
wiley   +1 more source

Bile acids at neutral and acidic pH induce apoptosis and gene cleavages in nasopharyngeal epithelial cells: implications in chromosome rearrangement. [PDF]

BMC Cancer, 2018
Tan SN, Sim SP.
europepmc   +1 more source

Diving Deeper Into Mechanisms of Acrylamide‐Induced Toxicity: RNA Sequencing Reveals Transcriptomic Alteration and Retrotransposon Expression in Drosophila melanogaster

Environmental Toxicology, EarlyView.
ABSTRACT Given the inevitability of human and animal exposure to acrylamide, there is increasing concern regarding its potential health risks. While a number of molecular mechanisms have been proposed, the complexity of acrylamide toxicological pathways and interactions remains incompletely characterized.
Oluwabukola Mary Farodoye, Titilayomi Ayomide Otenaike, Daniela Moreira Mombach, Monica Medeiros Silva, Amos Olalekan Abolaji, Elgion Lucio Da Silva Loreto   +5 more
wiley   +1 more source

A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences. [PDF]

J Assist Reprod Genet, 2017
Trpchevska N, Dimova I, Arabadji T, Milachich T, Angelova S, Dimitrova M, Hristova-Savova M, Andreeva P, Timeva T, Shterev A.   +9 more
europepmc   +1 more source

Russian wheat aphid: a model for genomic plasticity and a challenge to breeders

Insect Science, EarlyView.
Invasive foundress finds suitable habitat and reproduces through pathogenesis. Wingless females produce life offspring quickly, which leads to high population densities. High population densities result in competition, which may induce epigenetic changes and wing development for dispersal.
Astrid Jankielsohn, Vicky L. Tolmay, Marlon‐Schylor Luke le Roux, Lintle Mohase, Mpho S. Mafa, Vittorio F. Nicolis, Eduard Venter, Nicolaas Francois Visser Burger, Anna‐Maria Botha   +8 more
wiley   +1 more source

3Disease Browser: A Web server for integrating 3D genome and disease-associated chromosome rearrangement data. [PDF]

Sci Rep, 2016
Li R, Liu Y, Li T, Li C.
europepmc   +1 more source