Clinical genetic testing was performed on over 10,000 consecutive cases referred for evaluation of germ-line cancer genes, and results were analyzed for frequency of pathogenic or likely pathogenic variants, and were stratified by testing panel, gene, and clinical history. Genet Med188, 823–832....
who were primarily neurologists or geneticists working in private practice, private hospitals, or university-based medical centers. The majority of patients resided in the United States or Canada. In a subset of probands with heterozygous or hemizygous pathogenic or likely pathogenic variants, parental...
A germline pathogenic / likely pathogenic variant (P/LP), in a gene relevant to the personal or family history of cancer, was detected in 15 patients (detection rate of 10%). 46.7% of those found to have the P/LP variants (7 of 15), or 4.6% of the entire set (7 of 152), did...
This cohort study uses data from the UK Biobank to assess the prevalence and clinical importance of pathogenic or likely pathogenic variants associated
Of these 10 pathogenic variants, 5 (50.00%) were radical variants; the rest were missense variants. All of the missense variants were damaging based on in silico predictions. Except for SCN5A-G452C, the other 9 variants were all pathogenic or likely pathogenic according to ACMG in VarSome. ...
标题(英文):Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders 标题(中文):新不伦瑞克省的致病变异携带者筛查:阿卡迪亚人揭示了多种遗传疾病的高携带者频率 发表期刊:BMC Medical Genomics 作者单位:亚特兰大癌症研究所等 发表年份:2022 文章...
Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts the pathogenicity of multi-type variants. MAG
标题(英文):Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders 标题(中文):新不伦瑞克省的致病变异携带者筛查:阿卡迪亚人揭示了多种遗传疾病的高携带者频率 发表期刊:BMC Medical Genomics 作者单位:亚特兰大癌症研究所等 发表年份:2022 文章...
Pathogenic or likely pathogenic variants were detected in 10 of the 22 analyzed genes (Fig.2, Table2, Supplementary TableS3).NF1showed the highest prevalence (n = 8; 1% of cases); the majority of patients having CNS tumors.TP53had the second highest prevalence (n = 6; 0.76%),...
Hearing impairment (HI) is characterized by extensive genetic heterogeneity. To determine the population-specific contribution of known autosomal recessive nonsyndromic (ARNS)HI genes and variants to HI etiology; pathogenic and likely pathogenic (PLP) AR