Lv22
110 积分 2023-08-22 加入
Reclassification of missense variant pathogenicity using ClinGen recommendations for recalibrated PP3/BP4 in silico predictor score thresholds
1天前
求助中
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
1天前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
1天前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
1天前
已完结
Heterozygous Effect in Biallelic Mendelian Diseases
16天前
已关闭
Carriers of autosomal recessive conditions: are they really ‘unaffected?’
16天前
已完结
Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
27天前
已关闭
Accurately Identifying Low-Allelic Fraction Variants in Single Samples with Next-Generation Sequencing: Applications in Tumor Subclone Resolution
28天前
已完结
Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
28天前
已关闭
Somatic mosaics in hereditary tumor predisposition syndromes
28天前
已完结
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