Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases. [PDF]
Context.-The number of targeted next-generation sequencing (NGS) panels for genetic diseases offered by clinical laboratories is rapidly increasing. Before an NGS-based test is implemented in a clinical laboratory, appropriate validation studies are ...
Ferreira-Gonzalez, Andrea +8 more
core +3 more sources
Globe artichoke (Cynara cardunculus var. scolymus; 2n2x=34) is cropped largely in the Mediterranean region, being Italy the leading world producer; however, over time, its cultivation has spread to the Americas and China.
Alberto Acquadro +4 more
doaj +1 more source
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment [PDF]
Targeted mutagenesis by the CRISPR/Cas9 system is currently revolutionizing genetics. The ease of this technique has enabled genome engineering in-vitro and in a range of model organisms and has pushed experimental dimensions to unprecedented proportions.
Boel, Annekatrien +7 more
core +2 more sources
Antibodies have emerged as the leading class of biotherapeutics, yet traditional screening methods face significant time and resource challenges in identifying lead candidates.
Marianne Bachmann Salvy +5 more
doaj +1 more source
Identification, Molecular and Phylogenetic Characterization of Two Isolates of vinca mosaic virus Based on p1 and cp Genes [PDF]
Introduction Vinca minor or lesser periwinkle is a perennial, herbaceous and creeping plant belonging to the genus Vinca and the family Apocynaceae. In addition to being an ornamental and cover plant, V.
Sorya Turang +2 more
doaj +1 more source
Pathogen Genomic Surveillance and Bioinformatics Training and Capacity Development Across Africa
Introduction: The recent emergence and re-emergence of infectious diseases across Africa have emphasised the critical need for vigorous pathogen genomic surveillance systems on the continent.
Ms Siddiqah George +4 more
doaj +1 more source
Accurate Adapter Information Is Crucial for Reproducibility and Reusability in Small RNA Seq Studies
A necessary pre-processing data analysis step is the removal of adapter sequences from the raw reads. While most adapter trimming tools require adapter sequence as an essential input, adapter information is often incomplete or missing.
Xiangfu Zhong +3 more
doaj +1 more source
The complete chloroplast genome of the Egyptian henbane (Hyoscyamus muticus L., Solanaceae)
Egyptian henbane (Hyoscyamus muticus L. Mant. Pl. 1767) is an important medicinal plant of the family Solanaceae. Its complete chloroplast (cp) genome was assembled using Illumina high-throughput sequencing technology to contribute to its conservation ...
Mahmoud Magdy +2 more
doaj +1 more source
Standardization of sequencing coverage depth in NGS: Recommendation for detection of clonal and subclonal mutations in cancer diagnostics [PDF]
The insufficient standardization of diagnostic next-generation sequencing (NGS) still limits its implementation in clinical practice, with the correct detection of mutations at low variant allele frequencies (VAF) facing particular challenges. We address
Dýšková, Tereza +7 more
core +1 more source
Microphis deocata (deocata pipefish), belonging to family Syngnathidae, is one of the important indigenous ornamental fish species listed as near threatened in the IUCN red list. Here, we first report the complete mitochondrial genome of deocata pipefish
Lakshman Sahoo +9 more
doaj +1 more source

