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A Boy with End-Stage Kidney Disease and Hypertriglyceridemia.
Indian J Nephrol
November 2023
Pediatric Nephrology, Kidney Institute, Medanta, The Medicity, Gurgaon, Haryana, India.
Mutations in the HNF-1β gene have been found to be associated with renal cysts and diabetes syndrome (RCAD), also known as MODY5. The mutation is inherited in an autosomal dominant fashion, although sporadic mutations can be seen. Pediatric cases of HNF - 1β mutations are more likely to present with renal involvement like renal failure or renal hypoplasia.
View Article and Find Full Text PDFTranscriptome Signatures of Atlantic Salmon-Resistant Phenotypes against Sea Lice Infestation Are Associated with Tissue Repair.
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April 2023
Hendrix Genetics Aquaculture, Villarica P.O. Box 4930000, Chile.
Salmon aquaculture is constantly threatened by pathogens that impact fish health, welfare, and productivity, including the sea louse . This marine ectoparasite is mainly controlled through delousing drug treatments that have lost efficacy. Therein, strategies such as salmon breeding selection represent a sustainable alternative to produce fish with resistance to sea lice.
View Article and Find Full Text PDFPhishing alert! A Cas9-based method reveals the identity of promoter-bound transcription factors.
Plant Physiol
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Department of Plant Biotechnology and Bioinformatics, Ghent University, 9000 Ghent, Belgium.
DNA Fingerprinting: Use of Autosomal Short Tandem Repeats in Forensic DNA Typing.
Cureus
October 2022
Forensic Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Short tandem repeat (STR) markers for autosomal STR are used in forensic deoxyribonucleic acid (DNA) typing to track down the missing, verify family connections, and potentially connect suspects to crime sites. It is well acknowledged that forensically relevant genetic markers cannot predict phenotype. There is no evidence to support the claim that directly using forensic STR variations causes or indicates illness.
View Article and Find Full Text PDFGenome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
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SeqOne Genomics, Montpellier, France.
Article Synopsis
- The study addresses the challenge of manually reinterpreting sequenced genomic data due to human resource limitations and inconsistent procedures, highlighting the need for more efficient methods.* -
- The Genome Alert! method automates the reporting of clinically significant changes in variant classifications from the ClinVar database, revealing a significant number of changes and new gene-disease associations over a two-year period.* -
- The use of Genome Alert! resulted in a high validation rate of classification changes, leading to new diagnoses for several patients and the identification of valuable gene-disease associations not previously documented in existing databases.*
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