G2PDeep: a web-based deep-learning framework for quantitative phenotype prediction and discovery of genomic markers
Sign Up to like & getrecommendations! Published in 2021 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkab407
Abstract: Abstract G2PDeep is an open-access web server, which provides a deep-learning framework for quantitative phenotype prediction and discovery of genomics markers. It uses zygosity or single nucleotide polymorphism (SNP) information from plants and animals as… read more here.
Keywords: phenotype; genomic markers; deep learning; quantitative phenotype ... See more keywords
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Human Mutation"
DOI: 10.1155/2023/8200176
Abstract: Characterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been… read more here.
Keywords: phenotype; satb2 associated; associated syndrome; quantitative phenotype ... See more keywords
Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer’s disease endophenotypes
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01046-6
Abstract: Background Current sequencing technologies have provided for a more comprehensive genome-wide assessment and have increased genotyping accuracy of rare variants. Scan statistic approaches have previously been adapted to genetic sequencing data. Unlike currently-employed association tests,… read more here.
Keywords: scan statistic; phenotype scan; alzheimer disease; quantitative phenotype ... See more keywords