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160 积分 2023-07-09 加入
Gene selection for genomic newborn screening: moving towards consensus?
1小时前
已完结
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
2小时前
已完结
Saturation mutagenesis-reinforced functional assays for disease-related genes
1天前
已完结
A genomic mutational constraint map using variation in 76,156 human genomes
2天前
已完结
Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis
1个月前
已完结
Curated variation benchmarks for challenging medically relevant autosomal genes
1个月前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
2个月前
已完结
Population screening requires robust evidence—genomics is no exception
3个月前
已完结
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
3个月前
已完结
Pathophysiology of Inflammatory Bowel Diseases
5个月前
已完结
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