Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types [0.03%]
基于大规模并行报告基因文库的元分析可以在不同细胞类型间预测调控元件的功能
Anat Kreimer,Zhongxia Yan,Nadav Ahituv et al.
Anat Kreimer et al.
Deciphering the potential of noncoding loci to influence gene regulation has been the subject of intense research, with important implications in understanding genetic underpinnings of human diseases. Massively parallel reporter assays (MPR...
Meta-Analysis
Human mutation. 2019 Sep;40(9):1299-1313. DOI:10.1002/humu.23820 2019
Jinling Tang,Trevor Lee,Tao Sun
Jinling Tang
Cytosine base editors (CBEs) and adenine base editors (ABEs), which are generally composed of an engineered deaminase and a catalytically impaired CRISPR-Cas9 variant, are new favorite tools for single base substitution in cells and organis...
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts [0.03%]
首次估计生成野生型转录本的规范5′剪接位点GT>GC变异体的比例和规模
Jin-Huan Lin,Xin-Ying Tang,Arnaud Boulling et al.
Jin-Huan Lin et al.
It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating wild-type transcripts in the case of GT>GC substi...
Meta-Analysis
Human mutation. 2019 Oct;40(10):1856-1873. DOI:10.1002/humu.23821 2019
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains [0.03%]
通过人同源蛋白质结构域聚集进行基因变异致病性分析：MetaDome
Laurens Wiel,Coos Baakman,Daan Gilissen et al.
Laurens Wiel et al.
The growing availability of human genetic variation has given rise to novel methods of measuring genetic tolerance that better interpret variants of unknown significance. We recently developed a concept based on protein domain homology in t...
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy [0.03%]
KARS基因突变导致一种严重的神经病和神经感觉疾病伴发视神经病变
Sophie Scheidecker,Séverine Bär,Corinne Stoetzel et al.
Sophie Scheidecker et al.
Mutations in genes encoding aminoacyl-tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl-tRNA synthetase and its cytosolic isoform belongs to the multiple aminoacyl-tRNA synthetase complex ...
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major [0.03%]
一种新的红细胞转录因子KLF1突变可能是改善β型地中海贫血的罪魁祸首
Pavlos Fanis,Ioanna Kousiappa,Marios Phylactides et al.
Pavlos Fanis et al.
We describe the identification of a novel missense mutation in the second zinc finger of KLF1 in two siblings who, based on their genotype, are predicted to suffer from beta thalassemia major but are, in fact, transfusion-free and in good h...
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry [0.03%]
非洲血统妇女的BRCA1和BRCA2致病序列变异
Tara M Friebel,Irene L Andrulis,Judith Balmaña et al.
Tara M Friebel et al.
BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African descent individ...
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge [0.03%]
CAGI 5 ENIGMA 挑战中BRCA1和BRCA2特异的用于变异解读的湿实验工具
Natàlia Padilla,Alejandro Moles-Fernández,Casandra Riera et al.
Natàlia Padilla et al.
BRCA1 and BRCA2 (BRCA1/2) germline variants disrupting the DNA protective role of these genes increase the risk of hereditary breast and ovarian cancers. Correct identification of these variants then becomes clinically relevant, because it ...
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex [0.03%]
与ZBTB18基因错义突变相关的疾病通过干扰DNA结合及胚胎大脑皮层内神经元的发育导致疾病症状出现
Isabel A Hemming,Olivier Clément,Ivan E Gladwyn-Ng et al.
Isabel A Hemming et al.
The activities of DNA-binding transcription factors, such as the multi-zinc-finger protein ZBTB18 (also known as RP58, or ZNF238), are essential to coordinate mammalian neurodevelopment, including the birth and radial migration of newborn n...
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia [0.03%]
低密度脂蛋白受体新变异的功能分析及其与家族性高胆固醇血症的关系研究
Carmen Rodríguez-Jiménez,Olga Pernía,Jose Mostaza et al.
Carmen Rodríguez-Jiménez et al.
Familial hypercholesterolemia is an autosomal dominant disease of lipid metabolism caused by defects in the genes LDLR, APOB, and PCSK9. The prevalence of heterozygous familial hypercholesterolemia (HeFH) is estimated between 1/200 and 1/25...