Lv7
4880 积分 2021-06-23 加入
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
2个月前
已完结
ISCN 2024
10个月前
已关闭
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
11个月前
已完结
Critical prenatal diagnosis and management of incidental exon 43–44 deletion in the dystrophin gene
11个月前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
11个月前
已完结
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
11个月前
已完结
Toward trustable use of machine learning models of variant effects in the clinic
11个月前
已完结
Rare coding variant analysis for human diseases across biobanks and ancestries
11个月前
已完结
A scalable artificial intelligence platform that automatically finds copy number variations (CNVs) in journal articles and transforms them into a database: CNV extraction, transformation, and loading AI (CNV-ETLAI)
1年前
已完结
A genomic mutational constraint map using variation in 76,156 human genomes
1年前
已完结