Lv2
200 积分 2022-06-17 加入
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
2天前
已完结
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
3个月前
已完结
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment
5个月前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
5个月前
已完结
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
5个月前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
6个月前
已完结
Role of titin in cardiomyopathy: from DNA variants to patient stratification
1年前
已完结
[Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities]
1年前
已完结
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
1年前
已完结
Genome assembly in the telomere-to-telomere era
1年前
已完结
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