Transferability of polygenic risk scores for metabolic and cardiovascular traits in an underrepresented population [0.03%]
代谢和心血管性状多基因风险评分在代表性不足的人群中的适用性
Phongthana Pasookhush,Apinya Surawit,Sophida Suta et al.
Phongthana Pasookhush et al.
Polygenic risk scores (PRSs) are promising tools for genetic risk stratification, but their performance across ancestries remains uncertain. We evaluated 64 published PRSs for eight cardiometabolic traits in 4879 Thai individuals using impu...
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer [0.03%]
基于398238例女性的全基因组关联研究揭示了7个与高级别浆液性卵巢癌相关的遗传位点
Daniel R Barnes,Jonathan P Tyrer,Joe Dennis et al.
Daniel R Barnes et al.
Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed >22 million variants for 398,238 women from the Ovarian Cancer Association Consortium (OCAC), UK Biobank (UKBB) and Consortium of ...
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets [0.03%]
基于REDCap的罕见病互操作性框架RareLink：将国际登记中心链接到FHIR和Phenopacket
Adam S L Graefe,Filip Rehburg,Samer Alkarkoukly et al.
Adam S L Graefe et al.
While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native interoperability with global health standards, limiting secondary use. We developed RareLink, an op...
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia [0.03%]
与运动不耐受和肌痛相关的PHKA1缺陷导致的磷酸果糖激酶缺乏症
Rebecca L Koch,Angie H Fares,Benjamin T Cocanougher et al.
Rebecca L Koch et al.
Muscle phosphorylase kinase deficiency results from X-linked pathogenic variants in PHKA1, leading to glycogen storage disease (GSD) type IXα1 (also known as GSD IXd). As part of an international collaboration, we describe 14 previously un...
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma [0.03%]
基于全基因组测序的成人胶质母细胞瘤易感性遗传因素分析
Mark P van Opijnen,Devin R van Valkengoed,Joep de Ligt et al.
Mark P van Opijnen et al.
The germline genetic susceptibility to adult glioblastoma remains unclear. With the option of broad molecular testing, it is crucial that clinicians are aware of the a priori probability of finding germline predisposition in glioblastoma pa...
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan [0.03%]
全基因组测序在台湾脊髓性肌肉萎缩症携带者及诊断患者的应用评估
Li-Ling Lin,Pei-Miao Chien,Tzu-Hung Hsiao et al.
Li-Ling Lin et al.
This study aimed to evaluate the feasibility of whole-genome sequencing (WGS) combined with computational tools for spinal muscular atrophy (SMA) carrier screening and disease diagnosis in Taiwan. WGS data from 1492 Taiwan Biobank participa...
Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome [0.03%]
Teebi远端症候群的致病新机制：SPECC1L基因内部缺失导致其翻译起始受阻
Arwa Babai,Daniela Oliveira,Andriana Gialeli et al.
Arwa Babai et al.
Missense and loss-of-function variants in SPECC1L are associated with Teebi Hypertelorism Syndrome 1 (TBHS1). Here, we report a novel SPECC1L intragenic deletion encompassing exon 3, which contains the canonical translation start site, in t...
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant [0.03%]
由CEP83启动子区双等位基因突变导致的乔布特综合征和口面数字综合征重叠的纤毛病一例报告
Matan M Jean,Anan Yunis,Tzofit Elbaz-Biton et al.
Matan M Jean et al.
Oro-Facial-Digital Syndrome (OFDS) and Joubert syndrome are ciliary disorders. Fifteen individuals of consanguineous Bedouin kindred presented with global developmental delay with no speech, and a clear OFDS phenotype, combined with Joubert...
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways [0.03%]
全基因组测序揭示青少年特发性脊柱侧凸的多个生物学通路
Islam Oguz Tuncay,Eun Kyoung Lee,Anxhela Gustafson et al.
Islam Oguz Tuncay et al.
Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder. This study used whole-genome sequencing (WGS) to investigate the genetic basis of AIS in 119 patients from 103 families. Our WGS analysis identified known pathogenic or pr...
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft [0.03%]
meta分析揭示与先天性心脏病和唇裂相关的转录因子和DNA结合域变异
Raehoon Jeong,Martha L Bulyk
Raehoon Jeong
Many congenital anomaly patients lack genetic diagnoses because there are many disease genes as yet to be discovered. We applied a gene burden test incorporating de novo predicted-loss-of-function (pLoF) and likely damaging missense variant...