Lv1
68 积分 2023-11-27 加入
A novel rearrangement of the α-globin gene cluster containing both the −α3.7 and ααααanti4.2 crossover junctions in a Chinese family
18小时前
待确认
The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing
2个月前
已完结
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
3个月前
已完结
Screening and treatment of thalassemia
4个月前
已完结
Het2Gene: a phenotype-driven model for gene prioritization by heterogeneous graph embedding
4个月前
已完结
An Agentic System for Rare Disease Diagnosis with Traceable Reasoning
6个月前
已完结
Integration of Artificial Intelligence, Machine Learning and Deep Learning Techniques in Genomics: Review on Computational Perspectives for NGS Analysis of DNA and RNA Seq Data
6个月前
已完结
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
6个月前
已完结
MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis
6个月前
已完结
AI-Driven Whole-Exome Sequencing: Advancing Variant Interpretation and Precision Medicine
6个月前
已完结