Lv2
140 积分 2023-07-09 加入
Monoallelic expression can govern penetrance of inborn errors of immunity
5小时前
已完结
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
2个月前
已完结
Gene selection for genomic newborn screening: moving towards consensus?
3个月前
已完结
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
3个月前
已完结
Saturation mutagenesis-reinforced functional assays for disease-related genes
3个月前
已完结
A genomic mutational constraint map using variation in 76,156 human genomes
3个月前
已完结
Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis
4个月前
已完结
Curated variation benchmarks for challenging medically relevant autosomal genes
4个月前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
5个月前
已完结
Population screening requires robust evidence—genomics is no exception
6个月前
已完结
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