Results 41 to 50 of about 1,873,067 (319)

Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

Scientific Reports
In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes.
Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen   +16 more
doaj   +1 more source

Hidden biases in germline structural variant detection

Genome Biology, 2021
Background Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging.
Michael M. Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, Andrew Carroll, Huixiao Hong, Bohu Pan, Leming Shi, Richard A. Gibbs, Marghoob Mohiyuddin, Yuanting Zheng, Fritz J. Sedlazeck   +10 more
doaj   +1 more source

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda, Tomohiro Saito, Masahide Mizobuchi, Tomoki Shimomura, Saki Kawamori, Mitsuru Kawanishi, Natsuko Hattori, Jo Sugiyama, Satoshi Tsubata, Hanami Horiguchi, Kazuki Abe, Nao Iida, Yuki Kajio, Nao Oguro, Ryo Yanai, Hirokazu Honda   +15 more
wiley   +1 more source

Demystifying the Discussion of Sequencing Panel Size in Oncology Genetic Testing

European Medical Journal, 2022
Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to identify cancer genomic variants and ultimately improve patient outcomes. The ability to massively sequence the entire genome or exome of tumour cells has been critical
Cecília Durães, Carla Pereira Gomes, Jose Luis Costa, Luca Quagliata   +3 more
doaj   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

BARCOSEL: a tool for selecting an optimal barcode set for high-throughput sequencing

BMC Bioinformatics, 2018
Background Current high-throughput sequencing platforms provide capacity to sequence multiple samples in parallel. Different samples are labeled by attaching a short sample specific nucleotide sequence, barcode, to each DNA molecule prior pooling them ...
Panu Somervuo, Patrik Koskinen, Peng Mei, Liisa Holm, Petri Auvinen, Lars Paulin   +5 more
doaj   +1 more source

Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis

International Journal of Microbiology, 2022
Introduction. Treatment of gonorrhoea infection is limited by the increasing prevalence of multidrug-resistant strains. Cost-effective molecular diagnostic tests can guide effective antimicrobial stewardship.
Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana   +10 more
doaj   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Efficient Method for Molecular Characterization of the 5′ and 3′ Ends of the Dengue Virus Genome

Viruses, 2020
Dengue is a mosquito-borne disease that is of major importance in public health. Although it has been extensively studied at the molecular level, sequencing of the 5′ and 3′ ends of the untranslated regions (UTR) commonly requires specific approaches for
Alicia Rosales-Munar, Diego Alejandro Alvarez-Diaz, Katherine Laiton-Donato, Dioselina Peláez-Carvajal, Jose A. Usme-Ciro   +4 more
doaj   +1 more source