Paternal age effect in autosomal dominant or X-linked de novo variants identified by genome-wide sequencing [0.03%]
全基因组测序鉴定的常染色体显性或X连锁新发变异中的父系年龄效应
Ella Beraldo,Shelin Adam,Colleen Guimond;CAUSES Study;IMAGINe Study;Jan M Friedman
Ella Beraldo
An increased frequency of sporadic autosomal dominant disorders has been observed among children born to older fathers. This paternal age effect is thought to reflect an accumulation of new mutations in the male germ line as DNA replication...
Philip Harraka,Robert L O&#x;Reilly,Jared Burke et al.
Philip Harraka et al.
Clonal haematopoiesis of indeterminate potential (CHIP) is associated with many diseases of ageing. Large research initiatives are needed to develop clinical guidelines for the management of individuals with CHIP, and their risk of disease....
Application of the STAAR Framework in Detecting Rare Variant Associations with Alzheimer's Disease and Related Dementias: Insights and Implications [0.03%]
STAAR框架在检测与阿尔茨海默病及相关痴呆罕见变异关联中的应用：见解与启示
Dongyu Wang,Sabrina Abbruzzese,Nancy Heard-Costa et al.
Dongyu Wang et al.
Rare genetic variation is considered a potential source of heritability in individuals with sporadic Alzheimer's Disease and related dementias (ADRD). The STAAR framework leverages multiple functional annotations of genetic variants and com...
Variant selection to maximize variance explained in cis-Mendelian randomization [0.03%]
用于顺式孟德尔随机化的方差最大化的变异选择
Ang Zhou,Ville Karhunen,Haodong Tian et al.
Ang Zhou et al.
Optimal selection of instrumental variables (IVs) from a single gene region in cis-Mendelian randomization is challenging as variants are highly correlated due to linkage disequilibrium (LD). Using only the lead variant is convenient but ma...
Germline HLA heterozygosity is associated with decreased lung cancer risk [0.03%]
基因组HLA杂合子与肺癌发病风险降低有关
Taotao Tan,Vikram R Shaw,Jinyoung Byun et al.
Taotao Tan et al.
Heterozygosity at human leukocyte antigen (HLA) loci may improve lung cancer immunosurveillance by increasing recognition of the tumor by the immune system. Previous studies utilizing data from population-level biobanks, such as the United ...
A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse Populations [0.03%]
基于564,680个具有不同背景的人群的全基因组大规模血压相关性研究同时考虑了基因和抑郁症状之间的相互作用关系
Songmi Lee,Clint L Miller,Amy R Bentley et al.
Songmi Lee et al.
Gene-environment interactions may enhance our understanding of blood pressure (BP) biology. We conducted a meta-analysis of multi-population genome-wide association studies of BP traits accounting for gene-depressive symptomatology (DEPR) i...
Accurate and scalable genome-wide ancestry estimation using haplotype clusters [0.03%]
基于单体型聚类的准确且可扩展的大规模基因组范围内的祖先起源估算方法
Jonas Meisner
Jonas Meisner
Unsupervised genome-wide ancestry estimation in unrelated individuals has been a staple in population and medical genetics for decades, and its importance continues to grow with the increasing number of large genetic cohorts of mixed ancest...
EEFSEC Deficiency Underlies a Human Selenopathy with Primary Neurodevelopmental Origins via Midbrain-Hindbrain Hypoplasia [0.03%]
EEFSEC缺乏导致一种以中脑-后脑发育不良为主要表现的新型人类硒缺乏病
Zhiyi Xia,Hui Liu,Pengbo Guo et al.
Zhiyi Xia et al.
Biallelic mutations in EEFSEC, a key factor in selenoprotein synthesis, cause a severe human selenopathy characterized by developmental delay, spasticity, and profound cerebellar atrophy. While previous studies in invertebrate models framed...
Evaluating genetic-ancestry inference from single-cell transcriptomic datasets [0.03%]
单细胞转录组数据集中遗传谱系推断的评估
Jianing Yao,Steven Gazal
Jianing Yao
Characterizing the ancestry of donors in single-cell transcriptomic studies is crucial to ensure genetic homogeneity, reduce biases in analyses, identify ancestry-specific regulatory mechanisms and their downstream roles in disease, and ens...
Jennifer L Watts,Nicole Costantino,Ammar Husami et al.
Jennifer L Watts et al.
Humans with pathogenic loss of function alanyl-tRNA synthetase 1 (AARS1) variants have a range of congenital brain phenotypes, including a high prevalence of microcephaly. The molecular mechanisms for this are unclear but zebrafish mutants ...