American Journal of Human Genetics
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#1Wenjian Bi (UM: University of Michigan)H-Index: 3
#2Lars G. Fritsche (UM: University of Michigan)H-Index: 31
Last. Seunggeun Lee (UM: University of Michigan)H-Index: 23
view all 5 authors...
With increasing biobanking efforts connecting electronic health records and national registries to germline genetics, the time-to-event data analysis has attracted increasing attention in the genetics studies of human diseases. In time-to-event data analysis, the Cox proportional hazards (PH) regression model is one of the most used approaches. However, existing methods and tools are not scalable when analyzing a large biobank with hundreds of thousands of samples and endpoints, and they are not...
#1Kyung-Hee Kim (Harvard University)H-Index: 6
#2Eun Pyo Hong (Harvard University)H-Index: 7
Last. Michael Orth (University of Ulm)H-Index: 36
view all 17 authors...
A recent genome-wide association study of Huntington disease (HD) implicated genes involved in DNA maintenance processes as modifiers of onset, including multiple genome-wide significant signals in a chr15 region containing the DNA repair gene Fanconi-Associated Nuclease 1 (FAN1). Here, we have carried out detailed genetic, molecular, and cellular investigation of the modifiers at this locus. We find that missense changes within or near the DNA-binding domain (p.Arg507His and p.Arg377Trp) reduce...
#1Yida Zhang (UCLA: University of California, Los Angeles)H-Index: 4
#2Harry Taegyun Yang (UCLA: University of California, Los Angeles)H-Index: 5
Last. Yi Xing (UPenn: University of Pennsylvania)H-Index: 49
view all 7 authors...
A major question in human genetics is how sequence variants of broadly expressed genes produce tissue- and cell type-specific molecular phenotypes. Genetic variation of alternative splicing is a prevalent source of transcriptomic and proteomic diversity in human populations. We investigated splicing quantitative trait loci (sQTLs) in 1,209 samples from 13 human brain regions, using RNA sequencing (RNA-seq) and genotype data from the Genotype-Tissue Expression (GTEx) project. Hundreds of sQTLs we...
#1Marcus A. Tuke (RD&E: Royal Devon and Exeter Hospital)H-Index: 10
#1Marcus A. TukeH-Index: 14
Last. Caroline F. Wright (RD&E: Royal Devon and Exeter Hospital)H-Index: 27
view all 9 authors...
Large copy-number variants (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease depends strongly on when and where the mutation occurred, i.e., germline versus somatic. We used microarray data from UK Biobank to investigate the prevalence and penetrance of large autosomal CNVs and chromosomal aneuploidies using a standard CNV detection algorithm not designed for detecting mosaic variants. We found 160 individuals that carry >10 Mb copy number changes, ...
#1Madison R. Bishop (Emory University)H-Index: 1
#2Kimberly K. Diaz Perez (Emory University)
view all 27 authors...
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 child-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to an individual's OFC risk. Overall, we identified a significant excess of loss-of-function DNMs in genes highly expre...
#1Lisenka E.L.M. Vissers (Radboud University Nijmegen)H-Index: 47
#2Sreehari Kalvakuri (DI: Discovery Institute)H-Index: 1
Last. Daniel L. Polla (Radboud University Nijmegen)H-Index: 4
view all 72 authors...
CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals with heterozygous de novo CNOT1 variants, including missense, splice site, and nonsense variants, who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seizures, hypotonia, and behavioral problems. To link CNOT1 dysfunction to the neurodevelopmental phenotype observed, we generated v...
#1Minhui Chen (SC: University of Southern California)H-Index: 1
#2Carlo SidoreH-Index: 26
Last. Charleston W. K. Chiang (SC: University of Southern California)H-Index: 20
view all 9 authors...
Adult height is one of the earliest putative examples of polygenic adaptation in humans. However, this conclusion was recently challenged because residual uncorrected stratification from large-scale consortium studies was considered responsible for the previously noted genetic difference. It thus remains an open question whether height loci exhibit signals of polygenic adaptation in any human population. We re-examined this question, focusing on one of the shortest European populations, the Sard...
#1Lynn M. Boyden (Yale University)H-Index: 11
#2Jing Zhou (Yale University)H-Index: 60
Last. Keith A. Choate (Yale University)H-Index: 21
view all 10 authors...
The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusively recessive. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in proc...
#1Alice B. Popejoy (Stanford University)H-Index: 4
#2Kristy R. Crooks (CU: University of Colorado Boulder)
Last. Hannah Wand (Stanford University)H-Index: 5
view all 17 authors...
Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (...
#1Julia Ramirez (UCL: University College London)H-Index: 39
#2Stefan van Duijvenboden (UCL: University College London)H-Index: 5
Last. Andrew Tinker (QMUL: Queen Mary University of London)H-Index: 32
view all 7 authors...
Sudden cardiac death is responsible for half of all deaths from cardiovascular disease. The analysis of the electrophysiological substrate for arrhythmias is crucial for optimal risk stratification. A prolonged T-peak-to-Tend (Tpe) interval on the electrocardiogram is an independent predictor of increased arrhythmic risk, and Tpe changes with heart rate are even stronger predictors. However, our understanding of the electrophysiological mechanisms supporting these risk factors is limited. We con...
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Top fields of study
Molecular biology
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