Association of Single-Nucleotide Variants in the Human Leukocyte Antigen and Other Loci With Childhood Hodgkin Lymphoma
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.25647
Abstract: Key Points Question What genetic variants or genes are associated with the risk of childhood Hodgkin lymphoma? Findings In this genetic association study nested within 3 childhood cancer survivor cohorts, 3 independent single-nucleotide variants (SNVs,… read more here.
Keywords: nucleotide variants; hodgkin lymphoma; childhood; single nucleotide ... See more keywords
Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.959
Abstract: Oculo‐auriculo‐vertebral spectrum (OAVS) is a craniofacial developmental disorder that affects structures derived from the first and second pharyngeal arches. The clinically heterogeneous phenotype involves mandibular, oral, and ear development anomalies. Etiology is complex and poorly… read more here.
Keywords: auriculo vertebral; single nucleotide; vertebral spectrum; spectrum oavs ... See more keywords
Ultraspecific Multiplexed Detection of Low-Abundance Single-Nucleotide Variants by Combining a Masking Tactic with Fluorescent Nanoparticle Counting.
Sign Up to like & getrecommendations! Published in 2018 at "Analytical chemistry"
DOI: 10.1021/acs.analchem.8b00685
Abstract: To be able to detect simultaneously multiple single-nucleotide variants (SNVs) with both ultrahigh specificity and low-abundance sensitivity is of pivotal importance for molecular diagnostics and biological research. In this contribution, we for the first time… read more here.
Keywords: detection; multiplexed detection; single nucleotide; nucleotide variants ... See more keywords
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0288-y
Abstract: Nucleotide variants that disrupt normal splicing might be the cause of a large number of diseases. Nevertheless, because of the complexity of splicing regulation, it is not always possible to accurately predict the effect of… read more here.
Keywords: functional reassessment; pax6 single; pax6; reassessment pax6 ... See more keywords
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis.
Sign Up to like & getrecommendations! Published in 2021 at "Nature medicine"
DOI: 10.1038/s41591-021-01411-9
Abstract: Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the development of hematological malignancies (HM) and cardiovascular diseases. Previous studies of CH analyzed either single-nucleotide variants and indels (SNVs/indels) or copy number alterations (CNAs),… read more here.
Keywords: snvs indels; clonal hematopoiesis; single nucleotide; number ... See more keywords
The leaf transcriptome of fennel (Foeniculum vulgare Mill.) enables characterization of the t-anethole pathway and the discovery of microsatellites and single-nucleotide variants
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-28775-2
Abstract: Fennel is a plant species of both agronomic and pharmaceutical interest that is characterized by a shortage of genetic and molecular data. Taking advantage of NGS technology, we sequenced and annotated the first fennel leaf… read more here.
Keywords: fennel; single nucleotide; transcriptome fennel; nucleotide variants ... See more keywords
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood‐Expanding the Phenotype of a Recently Reported Condition
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0038-1677514
Abstract: Case We report a 15‐year‐old Indian girl born to a consanguineous couple, who presented with epilepsy, developmental delay, neuroregression, and episodes of alternating hemiparesis. In addition, she had one episode of rhabdomyolysis at the age… read more here.
Keywords: nucleotide variants; single nucleotide; hemiplegia childhood; alternating hemiplegia ... See more keywords
Converting single nucleotide variants between genome builds: from cautionary tale to solution
Sign Up to like & getrecommendations! Published in 2021 at "Briefings in Bioinformatics"
DOI: 10.1093/bib/bbab069
Abstract: Abstract Next-generation sequencing studies are dependent on a high-quality reference genome for single nucleotide variant (SNV) calling. Although the two most recent builds of the human genome are widely used, position information is typically not… read more here.
Keywords: converting single; single nucleotide; genome builds; nucleotide variants ... See more keywords
A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis.
Sign Up to like & getrecommendations! Published in 2018 at "Human molecular genetics"
DOI: 10.1093/hmg/ddy015
Abstract: textabstractThe authors wish to apologize for the following two errors in the original article: (i) the first name of a co-author, Huseyin Gencay Keceli, was omitted; (ii) the statement 'This research was financially supported by… read more here.
Keywords: identifies nucleotide; genome wide; study identifies; association study ... See more keywords
PhD-SNPg: updating a webserver and lightweight tool for scoring nucleotide variants.
Sign Up to like & getrecommendations! Published in 2023 at "Nucleic acids research"
DOI: 10.1093/nar/gkad455
Abstract: One of the primary challenges in human genetics is determining the functional impact of single nucleotide variants (SNVs) and insertion and deletions (InDels), whether coding or noncoding. In the past, methods have been created to… read more here.
Keywords: nucleotide variants; tool; webserver lightweight; snpg updating ... See more keywords
Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4
Sign Up to like & getrecommendations! Published in 2022 at "Genome Research"
DOI: 10.1101/gr.276562.122
Abstract: Clinical exome sequencing has yielded extensive disease-related missense single-nucleotide variants (SNVs) of uncertain significance, leading to diagnostic uncertainty. KCNQ4 is one of the most commonly responsible genes for autosomal dominant nonsyndromic hearing loss. According to… read more here.
Keywords: nucleotide variants; function; missense; classification ... See more keywords