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1.
Sci Data ; 10(1): 41, 2023 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-36658144

RESUMO

We introduce MedMNIST v2, a large-scale MNIST-like dataset collection of standardized biomedical images, including 12 datasets for 2D and 6 datasets for 3D. All images are pre-processed into a small size of 28 × 28 (2D) or 28 × 28 × 28 (3D) with the corresponding classification labels so that no background knowledge is required for users. Covering primary data modalities in biomedical images, MedMNIST v2 is designed to perform classification on lightweight 2D and 3D images with various dataset scales (from 100 to 100,000) and diverse tasks (binary/multi-class, ordinal regression, and multi-label). The resulting dataset, consisting of 708,069 2D images and 9,998 3D images in total, could support numerous research/educational purposes in biomedical image analysis, computer vision, and machine learning. We benchmark several baseline methods on MedMNIST v2, including 2D/3D neural networks and open-source/commercial AutoML tools. The data and code are publicly available at https://medmnist.com/ .


Assuntos
Imageamento Tridimensional , Benchmarking , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/classificação , Imageamento Tridimensional/métodos , Aprendizado de Máquina , Redes Neurais de Computação
2.
Artigo em Inglês | MEDLINE | ID: mdl-36465475

RESUMO

Evaluation practices for image super-resolution (SR) use a single-value metric, the PSNR or SSIM, to determine model performance. This provides little insight into the source of errors and model behavior. Therefore, it is beneficial to move beyond the conventional approach and reconceptualize evaluation with interpretability as our main priority. We focus on a thorough error analysis from a variety of perspectives. Our key contribution is to leverage a texture classifier, which enables us to assign patches with semantic labels, to identify the source of SR errors both globally and locally. We then use this to determine (a) the semantic alignment of SR datasets, (b) how SR models perform on each label, (c) to what extent high-resolution (HR) and SR patches semantically correspond, and more. Through these different angles, we are able to highlight potential pitfalls and blindspots. Our overall investigation highlights numerous unexpected insights. We hope this work serves as an initial step for debugging blackbox SR networks.

3.
Artigo em Inglês | MEDLINE | ID: mdl-36455093

RESUMO

Volumetric data abounds in medical imaging and other fields. With the improved imaging quality and the increased resolution, volumetric datasets are getting so large that the existing tools have become inadequate for processing and analyzing the data. Here we consider the problem of computing tetrahedral meshes to represent large volumetric datasets with labeled multiple materials, which are often encountered in medical imaging or microscopy optical slice tomography. Such tetrahedral meshes are a more compact and expressive geometric representation so are in demand for efficient visualization and simulation of the data, which are impossible if the original large volumetric data are used directly due to the large memory requirement. Existing methods for meshing volumetric data are not scalable for handling large datasets due to their sheer demand on excessively large run-time memory or failure to produce a tet-mesh that preserves the multi-material structure of the original volumetric data. In this paper we propose a novel approach, called Marching Windows, that uses a moving window and a disk-swap strategy to reduce the run-time memory footprint, devise a new scheme that guarantees to preserve the topological structure of the original dataset, and adopt an error-guided optimization technique to improve both geometric approximation error and mesh quality. Extensive experiments show that our method is capable of processing very large volumetric datasets beyond the capability of the existing methods and producing tetrahedral meshes of high quality.

4.
Commun Biol ; 5(1): 1263, 2022 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-36400937

RESUMO

Upcoming technologies enable routine collection of highly multiplexed (20-60 channel), subcellular resolution images of mammalian tissues for research and diagnosis. Extracting single cell data from such images requires accurate image segmentation, a challenging problem commonly tackled with deep learning. In this paper, we report two findings that substantially improve image segmentation of tissues using a range of machine learning architectures. First, we unexpectedly find that the inclusion of intentionally defocused and saturated images in training data substantially improves subsequent image segmentation. Such real augmentation outperforms computational augmentation (Gaussian blurring). In addition, we find that it is practical to image the nuclear envelope in multiple tissues using an antibody cocktail thereby better identifying nuclear outlines and improving segmentation. The two approaches cumulatively and substantially improve segmentation on a wide range of tissue types. We speculate that the use of real augmentations will have applications in image processing outside of microscopy.


Assuntos
Aprendizado Profundo , Humanos , Animais , Processamento de Imagem Assistida por Computador/métodos , Aprendizado de Máquina , Núcleo Celular , Mamíferos
5.
iScience ; 25(11): 105382, 2022 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-36345339

RESUMO

Immunotherapy shows durable response but only in a subset of patients, and test for predictive biomarkers requires procedures in addition to routine workflow. We proposed a confounder-aware representation learning-based system, genopathomic biomarker for immunotherapy response (PITER), that uses only diagnosis-acquired hematoxylin-eosin (H&E)-stained pathological slides by leveraging histopathological and genetic characteristics to identify candidates for immunotherapy. PITER was generated and tested with three datasets containing 1944 slides of 1239 patients. PITER was found to be a useful biomarker to identify patients of lung adenocarcinoma with both favorable progression-free and overall survival in the immunotherapy cohort (p < 0.05). PITER was significantly associated with pathways involved in active cell division and a more immune activating microenvironment, which indicated the biological basis in identifying patients with favorable outcome of immunotherapy. Thus, PITER may be a potential biomarker to identify patients of lung adenocarcinoma with a good response to immunotherapy, and potentially provide precise treatment.

6.
Artigo em Inglês | MEDLINE | ID: mdl-36197856

RESUMO

Augmented sports videos, which combine visualizations and video effects to present data in actual scenes, can communicate insights engagingly and thus have been increasingly popular for sports enthusiasts around the world. Yet, creating augmented sports videos remains a challenging task, requiring considerable time and video editing skills. On the other hand, sports insights are often communicated using natural language, such as in commentaries, oral presentations, and articles, but usually lack visual cues. Thus, this work aims to facilitate the creation of augmented sports videos by enabling analysts to directly create visualizations embedded in videos using insights expressed in natural language. To achieve this goal, we propose a three-step approach - 1) detecting visualizable entities in the text, 2) mapping these entities into visualizations, and 3) scheduling these visualizations to play with the video - and analyzed 155 sports video clips and the accompanying commentaries for accomplishing these steps. Informed by our analysis, we have designed and implemented Sporthesia, a proof-of-concept system that takes racket-based sports videos and textual commentaries as the input and outputs augmented videos. We demonstrate Sporthesia's applicability in two exemplar scenarios, i.e., authoring augmented sports videos using text and augmenting historical sports videos based on auditory comments. A technical evaluation shows that Sporthesia achieves high accuracy (F1-score of 0.9) in detecting visualizable entities in the text. An expert evaluation with eight sports analysts suggests high utility, effectiveness, and satisfaction with our language-driven authoring method and provides insights for future improvement and opportunities.

7.
Artigo em Inglês | MEDLINE | ID: mdl-36191099

RESUMO

State-of-the-art neural language models can now be used to solve ad-hoc language tasks through zero-shot prompting without the need for supervised training. This approach has gained popularity in recent years, and researchers have demonstrated prompts that achieve strong accuracy on specific NLP tasks. However, finding a prompt for new tasks requires experimentation. Different prompt templates with different wording choices lead to significant accuracy differences. PromptIDE allows users to experiment with prompt variations, visualize prompt performance, and iteratively optimize prompts. We developed a workflow that allows users to first focus on model feedback using small data before moving on to a large data regime that allows empirical grounding of promising prompts using quantitative measures of the task. The tool then allows easy deployment of the newly created ad-hoc models. We demonstrate the utility of PromptIDE (demo: http://prompt.vizhub.ai) and our workflow using several real-world use cases.

8.
Neural Netw ; 155: 119-143, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36054984

RESUMO

The training data distribution is often biased towards objects in certain orientations and illumination conditions. While humans have a remarkable capability of recognizing objects in out-of-distribution (OoD) orientations and illuminations, Deep Neural Networks (DNNs) severely suffer in this case, even when large amounts of training examples are available. Neurons that are invariant to orientations and illuminations have been proposed as a neural mechanism that could facilitate OoD generalization, but it is unclear how to encourage the emergence of such invariant neurons. In this paper, we investigate three different approaches that lead to the emergence of invariant neurons and substantially improve DNNs in recognizing objects in OoD orientations and illuminations. Namely, these approaches are (i) training much longer after convergence of the in-distribution (InD) validation accuracy, i.e., late-stopping, (ii) tuning the momentum parameter of the batch normalization layers, and (iii) enforcing invariance of the neural activity in an intermediate layer to orientation and illumination conditions. Each of these approaches substantially improves the DNN's OoD accuracy (more than 20% in some cases). We report results in four datasets: two datasets are modified from the MNIST and iLab datasets, and the other two are novel (one of 3D rendered cars and another of objects taken from various controlled orientations and illumination conditions). These datasets allow to study the effects of different amounts of bias and are challenging as DNNs perform poorly in OoD conditions. Finally, we demonstrate that even though the three approaches focus on different aspects of DNNs, they all tend to lead to the same underlying neural mechanism to enable OoD accuracy gains - individual neurons in the intermediate layers become invariant to OoD orientations and illuminations. We anticipate this study to be a basis for further improvement of deep neural networks' OoD generalization performance, which is highly demanded to achieve safe and fair AI applications.


Assuntos
Iluminação , Reconhecimento Visual de Modelos , Humanos , Reconhecimento Visual de Modelos/fisiologia , Estimulação Luminosa , Neurônios/fisiologia , Redes Neurais de Computação
9.
Artigo em Inglês | MEDLINE | ID: mdl-36170403

RESUMO

New highly-multiplexed imaging technologies have enabled the study of tissues in unprecedented detail. These methods are increasingly being applied to understand how cancer cells and immune response change during tumor development, progression, and metastasis, as well as following treatment. Yet, existing analysis approaches focus on investigating small tissue samples on a per-cell ba- sis, not taking into account the spatial proximity of cells, which indicates cell-cell interaction and specific biological processes in the larger cancer microenvironment. We present Visinity, a scalable visual analytics system to analyze cell interaction patterns across cohorts of whole-slide multiplexed tissue images. Our approach is based on a fast regional neighborhood computation, leveraging unsupervised learning to quantify, compare, and group cells by their surrounding cellular neighborhood. These neighborhoods can be visually analyzed in an exploratory and confirmatory workflow. Users can explore spatial patterns present across tissues through a scalable image viewer and coordinated views highlighting the neighborhood composition and spatial arrangements of cells. To verify or refine existing hypothe- ses, users can query for specific patterns to determine their presence and statistical significance. Findings can be interactively anno- tated, ranked, and compared in the form of small multiples. In two case studies with biomedical experts, we demonstrate that Visinity can identify common biological processes within a human tonsil and uncover novel white-blood cell networks and immune-tumor interactions.

10.
Artigo em Inglês | MEDLINE | ID: mdl-36155468

RESUMO

Sports game data is becoming increasingly complex, often consisting of multivariate data such as player performance stats, historical team records, and athletes' positional tracking information. While numerous visual analytics systems have been developed for sports analysts to derive insights, few tools target fans to improve their understanding and engagement of sports data during live games. By presenting extra data in the actual game views, embedded visualization has the potential to enhance fans' game-viewing experience. However, little is known about how to design such kinds of visualizations embedded into live games. In this work, we present a user-centered design study of developing interactive embedded visualizations for basketball fans to improve their live game-watching experiences. We first conducted a formative study to characterize basketball fans' in-game analysis behaviors and tasks. Based on our findings, we propose a design framework to inform the design of embedded visualizations based on specific data-seeking contexts. Following the design framework, we present five novel embedded visualization designs targeting five representative contexts identified by the fans, including shooting, offense, defense, player evaluation, and team comparison. We then developed Omnioculars, an interactive basketball game-viewing prototype that features the proposed embedded visualizations for fans' in-game data analysis. We evaluated Omnioculars in a simulated basketball game with basketball fans. The study results suggest that our design supports personalized in-game data analysis and enhances game understanding and engagement.

11.
Sci Rep ; 12(1): 11349, 2022 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-35790766

RESUMO

Following significant advances in image acquisition, synapse detection, and neuronal segmentation in connectomics, researchers have extracted an increasingly diverse set of wiring diagrams from brain tissue. Neuroscientists frequently represent these wiring diagrams as graphs with nodes corresponding to a single neuron and edges indicating synaptic connectivity. The edges can contain "colors" or "labels", indicating excitatory versus inhibitory connections, among other things. By representing the wiring diagram as a graph, we can begin to identify motifs, the frequently occurring subgraphs that correspond to specific biological functions. Most analyses on these wiring diagrams have focused on hypothesized motifs-those we expect to find. However, one of the goals of connectomics is to identify biologically-significant motifs that we did not previously hypothesize. To identify these structures, we need large-scale subgraph enumeration to find the frequencies of all unique motifs. Exact subgraph enumeration is a computationally expensive task, particularly in the edge-dense wiring diagrams. Furthermore, most existing methods do not differentiate between types of edges which can significantly affect the function of a motif. We propose a parallel, general-purpose subgraph enumeration strategy to count motifs in the connectome. Next, we introduce a divide-and-conquer community-based subgraph enumeration strategy that allows for enumeration per brain region. Lastly, we allow for differentiation of edges by types to better reflect the underlying biological properties of the graph. We demonstrate our results on eleven connectomes and publish for future analyses extensive overviews for the 26 trillion subgraphs enumerated that required approximately 9.25 years of computation time.


Assuntos
Conectoma , Encéfalo/diagnóstico por imagem , Neurônios , Editoração , Sinapses
12.
IEEE Trans Vis Comput Graph ; 28(9): 3292-3306, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35696465

RESUMO

The base learners and labeled samples (shots) in an ensemble few-shot classifier greatly affect the model performance. When the performance is not satisfactory, it is usually difficult to understand the underlying causes and make improvements. To tackle this issue, we propose a visual analysis method, FSLDiagnotor. Given a set of base learners and a collection of samples with a few shots, we consider two problems: 1) finding a subset of base learners that well predict the sample collections; and 2) replacing the low-quality shots with more representative ones to adequately represent the sample collections. We formulate both problems as sparse subset selection and develop two selection algorithms to recommend appropriate learners and shots, respectively. A matrix visualization and a scatterplot are combined to explain the recommended learners and shots in context and facilitate users in adjusting them. Based on the adjustment, the algorithm updates the recommendation results for another round of improvement. Two case studies are conducted to demonstrate that FSLDiagnotor helps build a few-shot classifier efficiently and increases the accuracy by 12% and 21%, respectively.

13.
IEEE Trans Med Imaging ; 41(9): 2360-2370, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35377840

RESUMO

As connectomic datasets exceed hundreds of terabytes in size, accurate and efficient skeleton generation of the label volumes has evolved into a critical component of the computation pipeline used for analysis, evaluation, visualization, and error correction. We propose a novel topological thinning strategy that uses biological-constraints to produce accurate centerlines from segmented neuronal volumes while still maintaining biologically relevant properties. Current methods are either agnostic to the underlying biology, have non-linear running times as a function of the number of input voxels, or both. First, we eliminate from the input segmentation biologically-infeasible bubbles, pockets of voxels incorrectly labeled within a neuron, to improve segmentation accuracy, allow for more accurate centerlines, and increase processing speed. Next, a Convolutional Neural Network (CNN) detects cell bodies from the input segmentation, allowing us to anchor our skeletons to the somata. Lastly, a synapse-aware topological thinning approach produces expressive skeletons for each neuron with a nearly one-to-one correspondence between endpoints and synapses. We simultaneously estimate geometric properties of neurite width and geodesic distance between synapse and cell body, improving accuracy by 47.5% and 62.8% over baseline methods. We separate the skeletonization process into a series of computation steps, leveraging data-parallel strategies to increase throughput significantly. We demonstrate our results on over 1250 neurons and neuron fragments from three different species, processing over one million voxels per second per CPU with linear scalability.


Assuntos
Conectoma , Processamento de Imagem Assistida por Computador/métodos , Redes Neurais de Computação , Esqueleto
14.
IEEE Trans Vis Comput Graph ; 28(4): 1917-1929, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32946396

RESUMO

Blazars are celestial bodies of high interest to astronomers. In particular, through the analysis of photometric and polarimetric observations of blazars, astronomers aim to understand the physics of the blazar's relativistic jet. However, it is challenging to recognize correlations and time variations of the observed polarization, intensity, and color of the emitted light. In our prior study, we proposed TimeTubes to visualize a blazar dataset as a 3D volumetric tube. In this paper, we build primarily on the TimeTubes representation of blazar datasets to present a new visual analytics environment named TimeTubesX, into which we have integrated sophisticated feature and pattern detection techniques for effective location of observable and recurring time variation patterns in long-term, multi-dimensional datasets. Automatic feature extraction detects time intervals corresponding to well-known blazar behaviors. Dynamic visual querying allows users to search long-term observations for time intervals similar to a time interval of interest (query-by-example) or a sketch of temporal patterns (query-by-sketch). Users are also allowed to build up another visual query guided by the time interval of interest found in the previous process and refine the results. We demonstrate how TimeTubesX has been used successfully by domain experts for the detailed analysis of blazar datasets and report on the results.

15.
IEEE Trans Vis Comput Graph ; 28(1): 259-269, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34606456

RESUMO

Inspection of tissues using a light microscope is the primary method of diagnosing many diseases, notably cancer. Highly multiplexed tissue imaging builds on this foundation, enabling the collection of up to 60 channels of molecular information plus cell and tissue morphology using antibody staining. This provides unique insight into disease biology and promises to help with the design of patient-specific therapies. However, a substantial gap remains with respect to visualizing the resulting multivariate image data and effectively supporting pathology workflows in digital environments on screen. We, therefore, developed Scope2Screen, a scalable software system for focus+context exploration and annotation of whole-slide, high-plex, tissue images. Our approach scales to analyzing 100GB images of 109 or more pixels per channel, containing millions of individual cells. A multidisciplinary team of visualization experts, microscopists, and pathologists identified key image exploration and annotation tasks involving finding, magnifying, quantifying, and organizing regions of interest (ROIs) in an intuitive and cohesive manner. Building on a scope-to-screen metaphor, we present interactive lensing techniques that operate at single-cell and tissue levels. Lenses are equipped with task-specific functionality and descriptive statistics, making it possible to analyze image features, cell types, and spatial arrangements (neighborhoods) across image channels and scales. A fast sliding-window search guides users to regions similar to those under the lens; these regions can be analyzed and considered either separately or as part of a larger image collection. A novel snapshot method enables linked lens configurations and image statistics to be saved, restored, and shared with these regions. We validate our designs with domain experts and apply Scope2Screen in two case studies involving lung and colorectal cancers to discover cancer-relevant image features.


Assuntos
Gráficos por Computador , Neoplasias , Humanos , Microscopia , Neoplasias/diagnóstico por imagem , Software
16.
IEEE Trans Vis Comput Graph ; 28(1): 1106-1116, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34587072

RESUMO

Table2Text systems generate textual output based on structured data utilizing machine learning. These systems are essential for fluent natural language interfaces in tools such as virtual assistants; however, left to generate freely these ML systems often produce misleading or unexpected outputs. GenNI (Generation Negotiation Interface) is an interactive visual system for high-level human-AI collaboration in producing descriptive text. The tool utilizes a deep learning model designed with explicit control states. These controls allow users to globally constrain model generations, without sacrificing the representation power of the deep learning models. The visual interface makes it possible for users to interact with AI systems following a Refine-Forecast paradigm to ensure that the generation system acts in a manner human users find suitable. We report multiple use cases on two experiments that improve over uncontrolled generation approaches, while at the same time providing fine-grained control. A demo and source code are available at https://genni.vizhub.ai.

17.
Nat Biomed Eng ; 6(5): 515-526, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34750536

RESUMO

Multiplexed tissue imaging facilitates the diagnosis and understanding of complex disease traits. However, the analysis of such digital images heavily relies on the experience of anatomical pathologists for the review, annotation and description of tissue features. In addition, the wider use of data from tissue atlases in basic and translational research and in classrooms would benefit from software that facilitates the easy visualization and sharing of the images and the results of their analyses. In this Perspective, we describe the ecosystem of software available for the analysis of tissue images and discuss the need for interactive online guides that help histopathologists make complex images comprehensible to non-specialists. We illustrate this idea via a software interface (Minerva), accessible via web browsers, that integrates multi-omic and tissue-atlas features. We argue that such interactive narrative guides can effectively disseminate digital histology data and aid their interpretation.


Assuntos
Ecossistema , Software , Diagnóstico por Imagem
18.
Artigo em Inglês | MEDLINE | ID: mdl-34882554

RESUMO

Augmented Reality (AR) embeds digital information into objects of the physical world. Data can be shown in-situ, thereby enabling real-time visual comparisons and object search in real-life user tasks, such as comparing products and looking up scores in a sports game. While there have been studies on designing AR interfaces for situated information retrieval, there has only been limited research on AR object labeling for visual search tasks in the spatial environment. In this paper, we identify and categorize different design aspects in AR label design and report on a formal user study on labels for out-of-view objects to support visual search tasks in AR. We design three visualization techniques for out-of-view object labeling in AR, which respectively encode the relative physical position (height-encoded), the rotational direction (angle-encoded), and the label values (value-encoded) of the objects. We further implement two traditional in-view object labeling techniques, where labels are placed either next to the respective objects (situated) or at the edge of the AR FoV (boundary). We evaluate these ve different label conditions in three visual search tasks for static objects. Our study shows that out-of-view object labels are benecial when searching for objects outside the FoV, spatial orientation, and when comparing multiple spatially sparse objects. Angle-encoded labels with directional cues of the surrounding objects have the overall best performance with the highest user satisfaction. We discuss the implications of our ndings for future immersive AR interface design.

19.
Artigo em Inglês | MEDLINE | ID: mdl-34671767

RESUMO

The developmental process of embryos follows a monotonic order. An embryo can progressively cleave from one cell to multiple cells and finally transform to morula and blastocyst. For time-lapse videos of embryos, most existing developmental stage classification methods conduct per-frame predictions using an image frame at each time step. However, classification using only images suffers from overlapping between cells and imbalance between stages. Temporal information can be valuable in addressing this problem by capturing movements between neighboring frames. In this work, we propose a two-stream model for developmental stage classification. Unlike previous methods, our two-stream model accepts both temporal and image information. We develop a linear-chain conditional random field (CRF) on top of neural network features extracted from the temporal and image streams to make use of both modalities. The linear-chain CRF formulation enables tractable training of global sequential models over multiple frames while also making it possible to inject monotonic development order constraints into the learning process explicitly. We demonstrate our algorithm on two time-lapse embryo video datasets: i) mouse and ii) human embryo datasets. Our method achieves 98.1% and 80.6% for mouse and human embryo stage classification, respectively. Our approach will enable more pro-found clinical and biological studies and suggests a new direction for developmental stage classification by utilizing temporal information.

20.
Nature ; 593(7858): 238-243, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33828297

RESUMO

Genome-wide association studies (GWAS) have identified thousands of noncoding loci that are associated with human diseases and complex traits, each of which could reveal insights into the mechanisms of disease1. Many of the underlying causal variants may affect enhancers2,3, but we lack accurate maps of enhancers and their target genes to interpret such variants. We recently developed the activity-by-contact (ABC) model to predict which enhancers regulate which genes and validated the model using CRISPR perturbations in several cell types4. Here we apply this ABC model to create enhancer-gene maps in 131 human cell types and tissues, and use these maps to interpret the functions of GWAS variants. Across 72 diseases and complex traits, ABC links 5,036 GWAS signals to 2,249 unique genes, including a class of 577 genes that appear to influence multiple phenotypes through variants in enhancers that act in different cell types. In inflammatory bowel disease (IBD), causal variants are enriched in predicted enhancers by more than 20-fold in particular cell types such as dendritic cells, and ABC achieves higher precision than other regulatory methods at connecting noncoding variants to target genes. These variant-to-function maps reveal an enhancer that contains an IBD risk variant and that regulates the expression of PPIF to alter the membrane potential of mitochondria in macrophages. Our study reveals principles of genome regulation, identifies genes that affect IBD and provides a resource and generalizable strategy to connect risk variants of common diseases to their molecular and cellular functions.


Assuntos
Elementos Facilitadores Genéticos/genética , Predisposição Genética para Doença , Variação Genética/genética , Genoma Humano/genética , Estudo de Associação Genômica Ampla , Doenças Inflamatórias Intestinais/genética , Linhagem Celular , Cromossomos Humanos Par 10/genética , Ciclofilinas/genética , Células Dendríticas , Feminino , Humanos , Macrófagos/metabolismo , Masculino , Mitocôndrias/metabolismo , Especificidade de Órgãos/genética , Fenótipo
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