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1.
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Polygenic scores have become an important tool in human genetics, enabling the prediction of individuals' phenotypes from their genotypes. Understanding how the pattern o [...]
2024-12 |
Human Genetics |
Dissertation |
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2.
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Genetic effects are often context dependent, with the same genotype differentially affecting phenotypes across environments, life stages, and sexes. We used an environmen [...]
01 April 2018 |
Article |
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3.
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Gene exchange between species occurs in areas of secondary contact, where two species have the opportunity to hybridize. If heterospecific males are more common than cons [...]
22 June 2014 |
Article |
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4.
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We chose the “natural laboratory” provided by high-altitude native ethnic Tibetan women who had completed childbearing to examine the hypothesis that multiple oxygen [...]
21 October 2024 |
Human Genetics |
Article |
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5.
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Importance: Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of bre [...]
29 February 2024 |
Article |
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6.
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How complex are the rules by which a protein’s sequence determines its function? High-order epistatic interactions among residues are thought to be pervasive, suggestin [...]
11 September 2024 |
Ecology and Evolution; Genetics, Genomics, and Systems Biology; Human Genetics |
Article |
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7.
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Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing proteomic diversity. AS can also impact gene expression levels without increasing p [...]
02 September 2024 |
Human Genetics; Medicine |
Article |
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8.
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Early in the SARS-CoV2 pandemic, in this journal, Hou et al. (BMC Med 18:216, 2020) interpreted public genotype data, run through functional prediction tools, as suggesti [...]
26 August 2024 |
Human Genetics |
Article |
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9.
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Somatic structural variations (SVs) in cancer can shuffle DNA content in the genome, relocate regulatory elements, and alter genome organization. Enhancer hijacking occur [...]
25 July 2024 |
Ben May Department for Cancer Research; Human Genetics |
Article |
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10.
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Nuclear envelope (NE) ruptures are emerging observations in Lamin-related dilated cardiomyopathy, an adult-onset disease caused by loss-of-function mutations in Lamin A/C [...]
29 May 2024 |
Human Genetics; Pathology; Pediatrics |
Article |
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11.
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A protein’s genetic architecture – the set of causal rules by which its sequence produces its functions – also determines its possible evolutionary trajectories. Pr [...]
20 May 2024 |
Biochemistry and Molecular Biology; Biophysical Sciences; Ecology and Evolution; Genetics, Genomics, and Systems Biology; Human Genetics |
Article |
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12.
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MYC plays various roles in pluripotent stem cells, including the promotion of somatic cell reprogramming to pluripotency, the regulation of cell competition and the contr [...]
10 May 2024 |
Human Genetics |
Article |
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13.
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Importance: Less than 5% of patients with cancer enroll in a clinical trial, partly due to financial and logistic burdens, especially among underserved populations. Th [...]
12 April 2024 |
Human Genetics; Medicine |
Article |
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14.
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Nearly all trait-associated variants identified in genome-wide association studies (GWASs) are noncoding. The cis regulatory effects of these variants have been extensive [...]
01 April 2024 |
Genetics, Genomics, and Systems Biology; Human Genetics; Medicine |
Article |
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15.
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Paternal diet can influence the phenotype of the next generation, yet, the dietary components inducing specific responses in the offspring are not identified. Here, we us [...]
06 April 2024 |
Human Genetics |
Article |
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16.
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Humans exhibit considerable variability in their immune responses to the same immune challenges. Such variation is widespread and affects individual and population-level [...]
05 April 2024 |
Genetics, Genomics, and Systems Biology; Human Genetics; Immunology; Medicine |
Article |
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17.
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Previously, we showed that a massively parallel reporter assay, mSTARR-seq, could be used to simultaneously test for both enhancer-like activity and DNA methylation-depen [...]
26 February 2024 |
Human Genetics; Immunology; Medicine |
Article |
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18.
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Proximity sequencing (Prox-seq) simultaneously measures gene expression, protein expression and protein complexes on single cells. Using information from dual-antibody bi [...]
14 March 2024 |
Human Genetics; Pathology |
Article |
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19.
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Obesity is a complex disease, with both environmental and genetic causes, and it confers a significant global health burden while remaining difficult to treat and prevent [...]
2024-03 |
Human Genetics |
Dissertation |
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20.
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A core problem in genetics is molecular quantitative trait locus (QTL) mapping, in which genetic variants associated with changes in the molecular phenotypes are identifi [...]
12 February 2024 |
Human Genetics |
Article |
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21.
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Importance: Patients with mesothelioma often have next-generation sequencing (NGS) of their tumor performed; tumor-only NGS may incidentally identify germline pathogen [...]
09 August 2023 |
Human Genetics; Medicine; Pathology; Radiology; Surgery |
Article |
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22.
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Importance: Preeclampsia, gestational hypertension, and gestational diabetes, the most common pregnancy complications, are associated with substantial morbidity and mo [...]
24 February 2023 |
Human Genetics |
Article |
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23.
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Importance: The association of the nasal microbiome with outcomes in surgical patients is poorly understood. Objective: To characterize the composition of nasal [...]
29 April 2021 |
Human Genetics |
Article |
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24.
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Importance: Understanding birth cohort-specific tobacco smoking patterns and their association with total and cause-specific mortality is important for projecting futu [...]
29 March 2019 |
Human Genetics; Medicine; Public Health Sciences |
Article |
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25.
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Importance: Asia is home to the largest diabetic populations in the world. However, limited studies have quantified the association of diabetes with all-cause and caus [...]
19 April 2019 |
Human Genetics; Medicine; Public Health Sciences |
Article |
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