Lv1
50 积分 2023-05-15 加入
MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning
8个月前
已完结
Will variants of uncertain significance still exist in 2030?
11个月前
已完结
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
1年前
已完结
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
1年前
已完结
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
1年前
已关闭
Carriers of autosomal recessive conditions: are they really ‘unaffected?’
1年前
已完结
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
1年前
已完结
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
1年前
已关闭
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
1年前
已完结
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