Lv6
1740 积分 2023-01-30 加入
AAVC: an automated framework for high-accuracy ACMG-based variant classification
1个月前
已完结
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
2个月前
已完结
Near-perfect genome sequencing in medical genetics
2个月前
已完结
EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023
3个月前
已完结
The Y chromosome: male reproduction and beyond
3个月前
已完结
Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis
3个月前
已关闭
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation
4个月前
已完结
A relatively common hypomorphic variant in WARS2 causes monogenic disease
4个月前
已完结
Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome
5个月前
已完结
SLC44A1::PRKCA fusion-positive glioneuronal tumor without histological and epigenetic features of papillary glioneuronal tumor
5个月前
已完结
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