Results 221 to 230 of about 220,745 (323)

Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study. [PDF]

open access: yesEBioMedicine
Zhang S   +33 more
europepmc   +1 more source

Genome-wide scans for signatures of selection in Mangalarga Marchador horses using high-throughput SNP genotyping. [PDF]

open access: yesBMC Genomics, 2021
Santos WB   +10 more
europepmc   +1 more source

Integrating Plant Tissue Culture and DNA Barcoding: Cutting‐Edge Technologies for Plant Conservation in Sri Lanka 整合植物组织培养与dna条形码技术:斯里兰卡植物保护的前沿技术

open access: yesIntegrative Conservation, EarlyView.
Brief summary: Sri Lanka's biodiversity is threatened by habitat loss, climate change, and ineffective traditional conservation methods. Integrating plant tissue culture and DNA barcoding offers scalable, precise tools for conserving rare and endemic species.
Mylange Dona Kasundi Mekhala Gunasena   +2 more
wiley   +1 more source

SNP Discovery by Illumina-Based Transcriptome Sequencing of the Olive and the Genetic Characterization of Turkish Olive Genotypes Revealed by AFLP, SSR and SNP Markers

open access: gold, 2013
Hilal Betül Kaya   +6 more
openalex   +2 more sources

EnsembleCNV: An ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data [PDF]

open access: green, 2018
Zhongyang Zhang   +10 more
openalex   +1 more source

Genetic Evidence Implicating Gut Microbiota and Circulating Cytokines in Sjögren's Syndrome

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Complex bidirectional causal relationships were found between gut microbiota abundance and Sjögren's syndrome (SS). Five circulating cytokines were shown to potentially affect SS, including MIG, IL‐5, IL‐1RA, IL‐2RA, and SCGF‐β, and SS was found to increase levels of two circulating cytokines, IL‐1β and IL‐5.
Yuchen Cai   +5 more
wiley   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng   +9 more
wiley   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong   +7 more
wiley   +1 more source

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