Results 201 to 210 of about 98,982 (312)

Next-Generation Sequencing in Melioidosis: Enhancing Diagnosis, Epidemiology and Antimicrobial Resistance Surveillance. [PDF]

Diagnostics (Basel)
Wu H, Zhang P, Li S, Zhao H.
europepmc   +1 more source

Home and away: allometry and climate drive morphology of European rabbits in their native and introduced range

Oikos, EarlyView.
Climatic conditions shape phenotypic evolution by driving adaptations that optimise organismal function. Invasive species provide valuable systems to study these processes, as they often encounter novel climatic conditions in their introduced ranges. The European rabbit Oryctolagus cuniculus, native to the Iberian Peninsula, has established populations
Rishab Pillai, Natasha Lee Hiotis, Christine Böhmer, Cécile Callou, Thomas J. Nelson, Irina Ruf, Thomas J. Sanger, Julia Schaar, Kévin Le Verger, Madeleine Geiger, Brian Kraatz, Emma Sherratt   +11 more
wiley   +1 more source

Multi-Ancestry Genome-Wide Association with Fine-Mapping Identifies Novel Loci for Pigment Dispersion Syndrome and Pigmentary Glaucoma. [PDF]

Ophthalmol Glaucoma
Dibbs M, Jayaraj C, Martone JF, Bakhoum CY, Bakhoum MF.   +4 more
europepmc   +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

Methods for cost-efficient, whole genome sequencing surveillance for enhanced detection of outbreaks in a hospital setting. [PDF]

PLoS One
Waggle KD, Griffith MP, Rokes AB, Rangachar Srinivasa V, Nawrocki EM, Ereifej D, Patrick R, Coyle H, Chaudhary S, Raabe NJ, Shutt K, Sundermann AJ, Cooper VS, Harrison LH, Pless LL.   +14 more
europepmc   +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

From paediatric rebound to adult redistribution: changing the epidemiology of group A Streptococcus after COVID-19

The Lancet Microbe
Flavio De Maio, Roberto Rosato, Barbara Fiori, Giulia Santarelli, Marilena La Sorda, Tiziana D’Inzeo, Maurizio Sanguinetti   +6 more
doaj   +1 more source

gAIRR-wgs: high-resolution T cell receptor allele typing in biobank-scale whole-genome sequencing data. [PDF]

Brief Bioinform
Huang KT, Yang YH, Lin MJ, Lin YH, Lai SK, Chou TH, Lee CY, Hung TK, Hsu CL, Yang YC, Chen CY, Chen PL, Hsu JS.   +12 more
europepmc   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Algorithmic Determinants of Performance Heterogeneity in Whole-Genome Sequencing-Based Prediction of Drug Resistance in <i>Mycobacterium tuberculosis</i>: A Systematic Review and Meta-Analysis. [PDF]

Microorganisms
Peng B, Zhou Y, Li X, Liu H, Zhao B, Hou P, Ou X, Zhao Y.   +7 more
europepmc   +1 more source