Tasha E. Fingerlin
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View article: Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes Open
View article: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Inherited causes of clonal haematopoiesis in 97,691 whole genomes Open
View article: Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis
Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis Open
Background Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition that is more prevalent in males than females. The reasons for this are not fully understood; differing environmental exposures due to historically sex-biased occupa…
View article: Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets
Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets Open
Background Idiopathic pulmonary fibrosis (IPF) is a rare, incurable lung disease with a median survival of 3-5 years after diagnosis. Treatment options are limited. Genetic association studies can identify new genes involved in disease tha…
View article: Comparative analysis of ambient, in-home, and personal exposures reveals associations between breathing zone pollutant levels and asthma exacerbations in high-risk children
Comparative analysis of ambient, in-home, and personal exposures reveals associations between breathing zone pollutant levels and asthma exacerbations in high-risk children Open
Not applicable.
View article: The textures of sarcoidosis: quantifying lung disease through variograms
The textures of sarcoidosis: quantifying lung disease through variograms Open
Objective . Sarcoidosis is a granulomatous disease affecting the lungs in over 90% of patients. Qualitative assessment of chest CT by radiologists is standard clinical practice and reliable quantification of disease from CT would support o…
View article: Longitudinal changes in DNA methylation during the onset of islet autoimmunity differentiate between reversion versus progression of islet autoimmunity
Longitudinal changes in DNA methylation during the onset of islet autoimmunity differentiate between reversion versus progression of islet autoimmunity Open
Background Type 1 diabetes (T1D) is preceded by a heterogenous pre-clinical phase, islet autoimmunity (IA). We aimed to identify pre vs. post-IA seroconversion (SV) changes in DNAm that differed across three IA progression phenotypes, thos…
View article: The textures of sarcoidosis: quantifying lung disease through variograms
The textures of sarcoidosis: quantifying lung disease through variograms Open
Objective Sarcoidosis is a granulomatous disease affecting the lungs in over 90% of patients. Qualitative assessment of chest CT by radiologists is standard clinical practice and reliable quantification of disease from CT would support ong…
View article: Limitations of clustering with PCA and correlated noise
Limitations of clustering with PCA and correlated noise Open
It is now common to have a modest to large number of features on individuals with complex diseases. Unsupervised analyses, such as clustering with and without preprocessing by Principle Component Analysis (PCA), is widely used in practice …
View article: Rare genetic variants explain missing heritability in smoking
Rare genetic variants explain missing heritability in smoking Open
Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contribution of rare genetic variants to …
View article: Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed Open
Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL …
View article: Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis
Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis Open
Background Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition that is more prevalent in males than females. The reasons for this are not fully understood, with differing environmental exposures due to historically sex-biased o…
View article: Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis
Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis Open
Introduction Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and …
View article: Genome and Transcriptome-Wide Association Study of Fibrotic Sarcoidosis in European Americans
Genome and Transcriptome-Wide Association Study of Fibrotic Sarcoidosis in European Americans Open
"Genome and Transcriptome-Wide Association Study of Fibrotic Sarcoidosis in European Americans." American Journal of Respiratory and Critical Care Medicine, 209(3), pp. 334–337
View article: Spatially distinct molecular patterns of gene expression in idiopathic pulmonary fibrosis
Spatially distinct molecular patterns of gene expression in idiopathic pulmonary fibrosis Open
Background Idiopathic pulmonary fibrosis (IPF) is a heterogeneous disease that is pathologically characterized by areas of normal-appearing lung parenchyma, active fibrosis (transition zones including fibroblastic foci) and dense fibrosis.…
View article: Breathing zone pollutant levels are associated with asthma exacerbations in high-risk children
Breathing zone pollutant levels are associated with asthma exacerbations in high-risk children Open
Background Indoor and outdoor air pollution levels are associated with poor asthma outcomes in children. However, few studies have evaluated whether breathing zone pollutant levels associate with asthma outcomes. Objective Determine breath…
View article: Quantifying the spatial clustering characteristics of radiographic emphysema explains variability in pulmonary function
Quantifying the spatial clustering characteristics of radiographic emphysema explains variability in pulmonary function Open
Quantitative assessment of emphysema in CT scans has mostly focused on calculating the percentage of lung tissue that is deemed abnormal based on a density thresholding strategy. However, this overall measure of disease burden discards vir…
View article: A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities
A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities Open
Rationale: In addition to rare genetic variants and the MUC5B locus, common genetic variants contribute to idiopathic pulmonary fibrosis (IPF) risk. The predictive power of common variants outside the MUC5B locus for I…
View article: Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis
Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis Open
Introduction Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF and a…
View article: Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility
Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility Open
Sarcoidosis is a complex systemic disease. Our study aimed to (1) identify novel alleles associated with sarcoidosis susceptibility; (2) provide an in-depth evaluation of HLA alleles and sarcoidosis susceptibility and (3) integrate genetic…
View article: Identification of influential rare variants in aggregate testing using random forest importance measures
Identification of influential rare variants in aggregate testing using random forest importance measures Open
Aggregate tests of rare variants are often employed to identify associated regions compared to sequentially testing each individual variant. When an aggregate test is significant, it is of interest to identify which rare variants are “driv…
View article: Structural variation across 138,134 samples in the TOPMed consortium
Structural variation across 138,134 samples in the TOPMed consortium Open
View article: Structural variation across 138,134 samples in the TOPMed consortium
Structural variation across 138,134 samples in the TOPMed consortium Open
Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial an…
View article: Radiomic Profiling of Chest CT in a Cohort of Sarcoidosis Cases
Radiomic Profiling of Chest CT in a Cohort of Sarcoidosis Cases Open
Background High resolution computed tomography (HRCT) of the chest is increasingly used in clinical practice for sarcoidosis. Visual assessment of chest HRCTs in patients with sarcoidosis has high inter- and intra-rater variation. Radiomic…
View article: Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics
Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics Open
The research of rare and devastating orphan diseases, such as idiopathic pulmonary fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor-the prevalence of IPF is only approximately four times the incide…
View article: Incidence and Progression of Fibrotic Lung Disease in an At-Risk Cohort
Incidence and Progression of Fibrotic Lung Disease in an At-Risk Cohort Open
Rationale: Relatives of patients with familial interstitial pneumonia (FIP) are at increased risk for pulmonary fibrosis and develop preclinical pulmonary fibrosis (PrePF). Objectives: We defined the incidence and progression…
View article: Multiomic Signatures of Chronic Beryllium Disease Bronchoalveolar Lavage Cells Relate to T-Cell Function and Innate Immunity
Multiomic Signatures of Chronic Beryllium Disease Bronchoalveolar Lavage Cells Relate to T-Cell Function and Innate Immunity Open
Chronic beryllium disease (CBD) is a Th1 granulomatous lung disease preceded by sensitization to beryllium (BeS). We profiled the methylome, transcriptome, and selected proteins in the lung to identify molecular signatures and networks ass…
View article: Rare genetic variants explain missing heritability in smoking
Rare genetic variants explain missing heritability in smoking Open
View article: Evolution of the Gain-of-Function<i>MUC5B</i>Promoter Variant
Evolution of the Gain-of-Function<i>MUC5B</i>Promoter Variant Open
View article: Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of<i>MUC5B</i>and<i>DSP</i>in Idiopathic Pulmonary Fibrosis
Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of<i>MUC5B</i>and<i>DSP</i>in Idiopathic Pulmonary Fibrosis Open
Rationale: Common genetic variants have been associated with idiopathic pulmonary fibrosis (IPF). Objectives: To determine functional relevance of the 10 IPF-associated common genetic variants we previously identified. Met…