Hypomorphic alleles pose challenges in rare disease genomic variant interpretation,Clinical Genetics

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Hypomorphic alleles pose challenges in rare disease genomic variant interpretation
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-09-03 , DOI: 10.1111/cge.14052
Daniel K Nolan _{1,

2} , Bimal Chaudhari _{1,

3,

4} , Samuel J Franklin ₃ , Saranga Wijeratne ₃ , Ruthann Pfau _{3,

4,

5} , Theresa Mihalic Mosher _{3,

4} , Erin Crist ₃ , Kim L McBride _{1,

4,

6} , Peter White _{3,

4} , Richard K Wilson _{3,

4} , Scott E Hickey _{1,

4} , Daniel C Koboldt _{3,

4}

Affiliation

Exon skipping associated with an ATP7B intronic variant in a patient with Wilson's disease. (A) Sashimi plot visualization of aligned RNA sequencing data from proband liver tissue at ATP7B exons 14-13-12. The red track shows traditional RNA-seq data; the blue track shows RNA-seq enriched with exon capture (cDNA-cap) which achieves higher depth of protein-coding transcripts. The histogram indicates overall sequencing depth while arcs tabulate the number of junction-spanning reads supporting exon pairs. (B) The domain structure (top) and exon structure (bottom) of ATP7B. Loss of exon 13 (dashed box) would remove a transmembrane domain and disrupt the first phosphorylation domain

中文翻译：

亚型等位基因对罕见病基因组变异解释提出挑战

外显子跳跃与威尔逊病患者的 ATP7B 内含子变异相关。(A) 先证者肝组织在 ATP7B 外显子 14-13-12 处对齐 RNA 测序数据的生鱼片图可视化。红色轨迹显示传统的 RNA-seq 数据；蓝色轨迹显示富含外显子捕获 (cDNA-cap) 的 RNA-seq，可实现更高深度的蛋白质编码转录本。直方图表示整体测序深度，而弧线则列出了支持外显子对的跨连接读数的数量。(B) ATP7B 的结构域结构（上）和外显子结构（下）。外显子 13（虚线框）的缺失会去除一个跨膜结构域并破坏第一个磷酸化结构域

更新日期：2021-11-03

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