Anna Axakova,Amund H Berger,Warren van Loggerenberg et al.
Anna Axakova et al.
Pathogenic variants in the autoimmune regulator (AIRE) cause autoimmune polyendocrine syndrome type 1 (APS-1), a rare primary immunodeficiency disease with symptoms including hypoparathyroidism, adrenal insufficiency, and chronic mucocutane...
Kirill Zaslavsky,Liyin Chen,Chloe Park et al.
Kirill Zaslavsky et al.
Reply to Zaslavsky et al [0.03%]
致扎斯拉夫斯基等人的回信
Mathieu Quinodoz,Bart P Leroy
Mathieu Quinodoz
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features [0.03%]
导致ELAVL2单倍剂量不足的变异引起以显著的认知、行为和神经学特征为表现的神经发育障碍
Marina Boon,Meghan R Mulligan,Jolijn J A Verseput et al.
Marina Boon et al.
RNA-binding proteins (RBPs) regulate gene expression, and a number of RBPs have been implicated in brain function and behavior. Here, we report 16 individuals with a neurodevelopmental disorder and de novo heterozygous variants in ELAVL2, e...
Cell villages and Dirichlet modeling map human cell fitness genetics [0.03%]
细胞村落和狄利克雷建模揭示人类细胞适应性遗传学
Chloe Hanson,Timothy Derebenskiy,Ana Rodriguez Vega et al.
Chloe Hanson et al.
The capacity of cells to proliferate and survive is central to development and disease. Assays that measure cell fitness are therefore a cornerstone of biology, but traditional techniques lack donor diversity and have high technical variabi...
Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs [0.03%]
来自多态性重复序列的测序读段错配生成假阳性的转录表达数量性状位点
Alber Aqil,Betty Y H Huang,Pavlos Pavlidis et al.
Alber Aqil et al.
The discovery of trans-acting expression quantitative trait loci (trans-eQTLs) remains plagued by false positives. One unaddressed source of these false positives is polymorphic duplications absent in the reference genome. Specifically, RNA...
Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia [0.03%]
SOX3位点因染色体间的插入导致的位置效应引起遗传性痉挛性截瘫
Thorkild Terkelsen,Veronica Yumiceba,Joshua Kim et al.
Thorkild Terkelsen et al.
Pathogenic rewiring of the three-dimensional (3D) genome architecture is increasingly being identified as the cause of genetic diseases, but recognizing the cis-regulatory effects of structural variation remains a challenge. The Xq27.1 regi...
Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility [0.03%]
年龄组的等位基因频率轨迹揭示了正在塑造疾病易感性的自然选择
Jing-Lian Chen,Mei-Ling Kang,Cheng-Jui Lin et al.
Jing-Lian Chen et al.
Understanding how selection shapes disease risk remains challenging. Variants influencing complex traits, including common diseases, can also impact fitness and thus be constrained by purifying selection. Consequently, genetic variance unde...
Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures [0.03%]
将血液衍生的表标志物转化为无细胞类型依赖性的分类器：通向产前表标志物的捷径
Nikola Reko,Arteen Torabi-Marashi,Prajkta Kallurkar et al.
Nikola Reko et al.
DNA methylation (DNAm) episignatures are stable disorder-specific epigenetic patterns that serve as valuable biomarkers for assessing variant pathogenicity and phenotypic outcomes in neurodevelopmental disorders (NDDs). However, episignatur...
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes [0.03%]
次要剪接体非编码组分RNU6ATAC和RNU4ATAC的双倍体变异导致综合征单基因自身免疫糖尿病
Matthew B Johnson,James Russ-Silsby,Paul A Blair et al.
Matthew B Johnson et al.