Results 151 to 160 of about 162,110 (330)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Study on the mechanical properties and microscopic evolution mechanisms of weathered granite soil

Scientific Reports
Studying the effects of weathering on the mechanical properties and microscopic evolution of weathered granite soil (WGS) is essential for connecting microstructure with macroscopic behavior.
Yizhao Wang, Ruiling Jia, Yadong Li, Kezheng Yang, Jie Cui, Yi Shan   +5 more
doaj   +1 more source

SENSV: Detecting Structural Variations with Precise Breakpoints using Low-Depth WGS Data from a Single Oxford Nanopore MinION Flowcell [PDF]

, 2021
Henry Leung, Huijing Yu, Yifan Zhang, Wing Sze Leung, Ivan F. M. Lo, Ho‐Ming Luk, Wai-Chun Law, Ka Kui, Chak Lim Wong, Yat Sing Wong, Ruibang Luo, Tak‐Wah Lam   +11 more
openalex   +1 more source

Brownotate, a Comprehensive Solution to Generate Protein Sequence Databases for Any Species

PROTEOMICS, EarlyView.
ABSTRACT Proteomics is strengthening research in biology and the diversification of the model organisms studied is very promising for fully understanding the complexity of biological principles. However, the lack of protein sequence databases for many species is a major bottleneck.
Adrien Brown, Alexandre Burel, Sarah Cianférani, Christine Carapito, Fabrice Bertile   +4 more
wiley   +1 more source

Molecular and genomic advances in breast cancer: A comprehensive review of predictive and therapeutic innovations

Precision Medical Sciences, EarlyView.
Breast cancer subtypes, estrogen receptor‐positive (ER+), HER2‐enriched, and TNBC, are defined by genomic and epigenetic signatures. Multi‐omics profiling, immunotherapy, liquid biopsy, and AI‐driven radiogenomics enable precision medicine. Tools like Oncotype DX and PAM50 support personalized care.
Samina Malik, Arif Malik, Shahzad Ahmad, Hassan Mohsin, Shazia Iqbal   +4 more
wiley   +1 more source

Evaluation of Loss of the Y Chromosome in Peripheral Blood as a Biomarker for Prostate Cancer

The Prostate, EarlyView.
ABSTRACT Background Prostate cancer (PCa) is the most common malignant tumor in men, but the widely used prostate‐specific antigen (PSA) test has limited diagnostic accuracy. Research proposes that the loss of the Y chromosome (LOY) may affect the occurrence and development of prostate cancer, aiming to assess its potential as a diagnostic biomarker to
Jun Lu, Yan Lu, Takuro Kobayashi, Tsuyoshi Hachiya, Haruhiko Wakita, Yiming Jin, Yasunari Tanaka, Yoshihiro Ikehata, Masayoshi Nagata, Hisamitsu Ide, Shigeo Horie   +10 more
wiley   +1 more source

Protocol - Comparative genomic analysis of Listeria monocytogenes isolated from environments of salmon processing plants and human cases in Norway 2005-2016 - DNA isolation, WGS, and cgMLST v1 [PDF]

, 2020
Trond Løvdal
openalex   +1 more source

Semi‐automated seal detection on the Western Antarctic Peninsula: an unsupervised machine learning approach for detecting ice seals in aerial survey data

Remote Sensing in Ecology and Conservation, EarlyView.
This study presents a semi‐automated, rule‐based image analysis pipeline to detect ice seals in aerial surveys of the Western Antarctic Peninsula during an unusually low sea ice year. By using simple hierarchical clustering instead of deep learning, the method substantially reduced human annotation effort while achieving 82% recall, identifying 758 ...
Claire McGinnity, Connor C.G. Bamford, Nathan Fenney, Andrew Fleming, Jaume Forcada, Michael S. Tift, Luis A. Hückstädt, Daniel P. Costa, Peter T. Fretwell   +8 more
wiley   +1 more source

Systematic search for new HLA alleles in 4195 human 30x WGS samples [PDF]

EA Albert, AA Deviatkin, DI Smirnova, Mary Woroncow, Gaukhar Zobkova, A. V. Smirnova, PY Volchkov   +6 more
openalex   +1 more source