Cancer Gene Discovery: Past to Present.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8967-6_1
Abstract: Cancer is a complex disease that originates from genetic changes leading to multiple phenotypic manifestations that ultimately result in suffering and death from cancer. Attempts have been made to define the phenotypic and genetic "hallmarks"… read more here.
Keywords: cancer; discovery past; cancer gene; gene discovery ... See more keywords
Lessons learned from the DFNA37 gene discovery odyssey
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0395-8
Abstract: Despite significant advances in genetic technology, variant detection is still not as successful as it might be, even for cases and conditions that are clearly Mendelian. One way to increase the detection rate is by… read more here.
Keywords: dfna37 gene; col11a1; variant; gene ... See more keywords
A computational pipeline for functional gene discovery
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-03041-0
Abstract: Many computational pipelines exist for the detection of differentially expressed genes. However, computational pipelines for functional gene detection rarely exist. We developed a new computational pipeline for functional gene identification from transcriptome profiling data. Key… read more here.
Keywords: pipeline functional; gene discovery; computational pipeline; pipeline ... See more keywords
Modeling prior information of common genetic variants improves gene discovery for neuroticism
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx340
Abstract: Neuroticism reflects emotional instability, and is related to various mental and physical health issues. However, the majority of genetic variants associated with neuroticism remain unclear. Inconsistent genetic variants identified by different genome-wide association studies (GWAS)… read more here.
Keywords: genetic variants; discovery; neuroticism; prior information ... See more keywords
Recent genetic advances in early-onset dystonia.
Sign Up to like & getrecommendations! Published in 2020 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000000831
Abstract: PURPOSE OF REVIEW The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering array both… read more here.
Keywords: onset dystonia; advances early; early onset; gene discovery ... See more keywords
KnetMiner: a comprehensive approach for supporting evidence‐based gene discovery and complex trait analysis across species
Sign Up to like & getrecommendations! Published in 2021 at "Plant Biotechnology Journal"
DOI: 10.1111/pbi.13583
Abstract: Abstract The generation of new ideas and scientific hypotheses is often the result of extensive literature and database searches, but, with the growing wealth of public and private knowledge, the process of searching diverse and… read more here.
Keywords: evidence based; across species; discovery; gene ... See more keywords
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.674295
Abstract: Rare genetic disorders, while individually rare, are collectively common. They represent some of the most severe disorders affecting patients worldwide with significant morbidity and mortality. Over the last decade, advances in genomic methods have significantly… read more here.
Keywords: clinical outcomes; improved clinical; novel mendelian; gene ... See more keywords
Banana21: From Gene Discovery to Deregulated Golden Bananas
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Plant Science"
DOI: 10.3389/fpls.2018.00558
Abstract: Uganda is a tropical country with a population in excess of 30 million, >80% of whom live in rural areas. Bananas (Musa spp.) are the staple food of Uganda with the East African Highland banana,… read more here.
Keywords: golden bananas; banana21 gene; discovery deregulated; deregulated golden ... See more keywords