Lv4
440 积分 2023-06-06 加入
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
1天前
已关闭
Clinical validation of RNA sequencing for Mendelian disorder diagnostics
5天前
已关闭
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
7天前
已完结
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
8天前
已完结
Long amplicon HiFi sequencing for mitochondrial DNA genomes
9天前
已完结
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
12天前
已完结
Effectiveness of exercise therapy for individuals diagnosed with Charcot–Marie–Tooth disease: A systematic review of randomized clinical trials
12天前
已完结
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
12天前
已完结
HiFi long-read genomes for difficult-to-detect clinically relevant variants
20天前
已完结
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
21天前
已完结
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