17 Aug 2025
Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants. #DNAlanguageModels #RareGeneticVariants #PathogenicityPrediction #JournalHumanGenetics
nature.com/articles/s10038-0…
6
13
908
5 Aug 2024
Genome analysis through image processing with deep learning models. #GenoemAnalysis #ImageProcessing #DeepLearning #JournalHumanGenetics
nature.com/articles/s10038-0…
6
11
976
15 Jan 2022
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes. #AdaptiveSampling @nanopore #LongRead #Sequencing
nature.com/articles/s10038-0… #JournalHumanGenetics
3
17