Extension of the Pompe mutation database by linking disease-associated variants to clinical severity [0.03%]
通过将疾病相关变异与临床严重程度联系起来扩展庞培病突变数据库
Monica Y Niño,Stijn L M In &#x;t Groen,Atze J Bergsma et al.
Monica Y Niño et al.
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in si...
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis [0.03%]
TAB2 c.1398dup变异导致剂量不足并损害细胞外基质稳态
Silvia Morlino,Annalucia Carbone,Marco Ritelli et al.
Silvia Morlino et al.
Transforming growth factor β-activated kinase 1 (TAK1) mediates multiple biological processes through the nuclear factor κ-light-chain-enhancer of activated B cells (NF-κB) and the mitogen-activated protein kinase (MAPK) signaling pathwa...
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes [0.03%]
近期提出的结肠息肉易感基因对家族性腺瘤性息肉病贡献的评估及其在NTHL1和MSH3相关性状中的流行率
Mariona Terradas,Pau M Munoz-Torres,Sami Belhadj et al.
Mariona Terradas et al.
Technological advances have allowed the identification of new adenomatous and serrated polyposis genes, and of several candidate genes that require additional supporting evidence of causality. Through an exhaustive literature review and mut...
Predicting changes in protein stability caused by mutation using sequence-and structure-based methods in a CAGI5 blind challenge [0.03%]
在CAGI5盲测中基于序列和结构的方法预测突变引起的蛋白质稳定性变化
Alexey Strokach,Carles Corbi-Verge,Philip M Kim
Alexey Strokach
Predicting the impact of mutations on proteins remains an important problem. As part of the CAGI5 frataxin challenge, we evaluate the accuracy with which Provean, FoldX, and ELASPIC can predict changes in the Gibbs free energy of a protein ...
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer [0.03%]
评估用于预测西班牙裔乳腺癌女性中CHEK2基因变异致病性的计算方法的性能
Alin Voskanian,Panagiotis Katsonis,Olivier Lichtarge et al.
Alin Voskanian et al.
The availability of disease-specific genomic data is critical for developing new computational methods that predict the pathogenicity of human variants and advance the field of precision medicine. However, the lack of gold standards to prop...
Anne Vincenot,Paul Saultier,Shinji Kunishima et al.
Anne Vincenot et al.
The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombo...
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells [0.03%]
利用CRISPR-Cas9基因编辑技术在人类胚胎干细胞中检测Lynch综合征相关MSH2错义变异的功能性试验
Abhijit Rath,Akriti Mishra,Victoria Duque Ferreira et al.
Abhijit Rath et al.
Lynch syndrome (LS) predisposes patients to cancer and is caused by germline mutations in the DNA mismatch repair (MMR) genes. Identifying the deleterious mutation, such as a frameshift or nonsense mutation, is important for confirming an L...
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder [0.03%]
通过表型注释改善外显子组测序在罕见神经肌肉疾病中的诊断率
Rachel Thompson,Anastasios Papakonstantinou Ntalis,Sergi Beltran et al.
Rachel Thompson et al.
Phenotype-based filtering and prioritization contribute to the interpretation of genetic variants detected in exome sequencing. However, it is currently unclear how extensive this phenotypic annotation should be. In this study, we compare m...
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations [0.03%]
GH1基因突变阴性的孤立性特发性生长激素缺乏症患者的功能评估的GHRHR基因突变对其的贡献研究
Enzo Cohen,Sabrina Belkacem,Soumeya Fedala et al.
Enzo Cohen et al.
Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRHR coding exons...
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis [0.03%]
遗传检测过程中移动转座子的鉴定及其对常规诊断的影响
Nicolas Chatron,Kevin Cassinari,Olivier Quenez et al.
Nicolas Chatron et al.
Human retrocopies, that is messenger RNA transcripts benefitting from the long interspersed element 1 machinery for retrotransposition, may have specific consequences for genomic testing. Next genetration sequencing (NGS) techniques allow t...
Multicenter Study
Human mutation. 2019 Nov;40(11):1993-2000. DOI:10.1002/humu.23845 2019