14 results on '"Alquaddoomi F"'
Search Results
2. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
- Author
-
Cline, M.S., Liao, R.G., Parsons, M.T., Paten, B., Alquaddoomi, F., Antoniou, A., Baxter, S., Brody, L., Cook-Deegan, R., Coffin, A., Couch, F.J., Craft, B., Currie, R., Dlott, C.C., Dolman, L., Dunnen, J.T. den, Dyke, S.O.M., Domchek, S.M., Easton, D., Fischmann, Z., Foulkes, W.D., Garber, J., Goldgar, D., Goldman, M.J., Goodhand, P., Harrison, S., Haussler, D., Kato, K., Knoppers, B., Markello, C., Nussbaum, R., Offit, K., Plon, S.E., Rashbass, J., Rehm, H.L., Robson, M., Rubinstein, W.S., Stoppa-Lyonnet, D., Tavtigian, S., Thorogood, A., Zhang, C., Zimmermann, M., Burn, J., Chanock, S., Ratsch, G., Spurdle, A.B., Andreoletti, G., Baker, D., Brenner, S., Brush, M., Caputo, S., Castera, L., Cunningham, F., Hoya, M. de la, Diekhans, M., Dolinsky, J., Dwight, S., Eccles, D., Feng, B., Fiume, M., Flicek, P., Gaudet, P., Garcia, E.G., Haendel, M., Haeussler, M., Hahnen, E., Houdayer, C., Hunt, S., James, P., Lebo, M., Lee, J., Lerner-Ellis, J., Lin, M., Lincoln, S., Malheiro, A., Mesenkamp, A., Monteiro, A., Natzijl-Visser, E., Ngeow, J., North, K., Parkinson, H., Paschall, J., Patrinos, G., Phimister, B., Radice, P., Rainville, I., Rasmussen, M., Riley, G., Rouleau, E., Schmutzler, R., Shefchek, K., Sofia, H., Southey, M., Stuart, J., Thomas, J., Toland, A., Truty, R., Turn-Bull, C., Vaur, D., Vreeswijk, M.P.G., Walker, L., Walsh, M., Wappenschmidt, B., Weitzel, J., Wright, M., Zalunin, V., Zaranek, A., Zerbino, D., Zhou, A., Zhou, J., Zook, J., BRCA Challenge Authors, Eng, Charis, Liao, Rachel G [0000-0002-7830-1976], Parsons, Michael T [0000-0003-3242-8477], Alquaddoomi, Faisal [0000-0003-4297-8747], Baxter, Samantha [0000-0003-4616-9234], Coffin, Amy [0000-0003-2723-8222], Currie, Robert [0000-0003-1828-1827], Dlott, Chloe C [0000-0002-7268-7230], Dolman, Lena [0000-0002-3938-588X], Fischmann, Zachary [0000-0002-7687-0972], Foulkes, William D [0000-0001-7427-4651], Goldman, Mary J [0000-0002-9808-6388], Goodhand, Peter [0000-0002-2624-2820], Harrison, Steven [0000-0002-9614-9111], Haussler, David [0000-0003-1533-4575], Markello, Charles [0000-0002-3653-7155], Plon, Sharon E [0000-0002-9626-0936], Rehm, Heidi L [0000-0002-6025-0015], Rubinstein, Wendy S [0000-0002-8790-9959], Tavtigian, Sean [0000-0002-7543-8221], Thorogood, Adrian [0000-0001-5078-8164], Chanock, Stephen [0000-0002-2324-3393], Rätsch, Gunnar [0000-0001-5486-8532], Spurdle, Amanda B [0000-0003-1337-7897], and Apollo - University of Cambridge Repository
- Subjects
0301 basic medicine ,Male ,Cancer Research ,Research Facilities ,endocrine system diseases ,Epidemiology ,Genes, BRCA2 ,Genes, BRCA1 ,Social Sciences ,Penetrance ,QH426-470 ,Patient advocacy ,Database and Informatics Methods ,0302 clinical medicine ,Resource (project management) ,Sociology ,Gene Frequency ,Consortia ,Risk Factors ,Databases, Genetic ,Medicine and Health Sciences ,Aetiology ,skin and connective tissue diseases ,Genetics (clinical) ,Cancer ,Ovarian Neoplasms ,education.field_of_study ,Cancer Risk Factors ,Genomics ,Genomic Databases ,3. Good health ,Viewpoints ,Phenotype ,Oncology ,030220 oncology & carcinogenesis ,Female ,Research Laboratories ,Population ,Genetic Causes of Cancer ,MEDLINE ,Information Dissemination ,Breast Neoplasms ,Patient Advocacy ,Biology ,Research and Analysis Methods ,Human Genomics ,03 medical and health sciences ,Databases ,Genetic ,Breast Cancer ,Genetics ,Humans ,Genetic Predisposition to Disease ,education ,Molecular Biology ,Ecology, Evolution, Behavior and Systematics ,Alleles ,Human Genome ,Biology and Life Sciences ,Computational Biology ,Genetic Variation ,Genome Analysis ,Genomic Libraries ,BRCA1 ,Data science ,BRCA2 ,Data sharing ,Health Care ,030104 developmental biology ,Biological Databases ,Good Health and Well Being ,Genes ,Genetic Loci ,Medical Risk Factors ,BRCA Challenge Authors ,Mutation ,Leiden Open Variation Database ,2.6 Resources and infrastructure (aetiology) ,Government Laboratories ,Developmental Biology - Abstract
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project’s outset, of which approximately 7,250 have expert classifications. The data set is based on shared information from existing clinical databases—Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)—as well as population databases, all linked to a single point of access. The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2., Author summary The goal of this study and paper has been to develop an international resource to generate an informed and current understanding of the impact of genetic variation on cancer risk across the cancer predisposition genes, BRCA1 and BRCA2. Reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org, to provide a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype.
- Published
- 2018
3. Ohmage
- Author
-
Tangmunarunkit, H., primary, Hsieh, C. K., additional, Longstaff, B., additional, Nolen, S., additional, Jenkins, J., additional, Ketcham, C., additional, Selsky, J., additional, Alquaddoomi, F., additional, George, D., additional, Kang, J., additional, Khalapyan, Z., additional, Ooms, J., additional, Ramanathan, N., additional, and Estrin, D., additional
- Published
- 2015
- Full Text
- View/download PDF
4. Ohmage: A General and Extensible End-to-End Participatory Sensing Platform.
- Author
-
TANGMUNARUNKIT, H., HSIEH, C. K., LONGSTAFF, B., NOLEN, S., JENKINS, J., KETCHAM, C., SELSKY, J., ALQUADDOOMI, F., GEORGE, D., KANG, J., KHALAPYAN, Z., OOMS, J., RAMANATHAN, N., and ESTRIN, D.
- Subjects
SENSOR networks ,DATA mining ,DATA analysis ,DATA distribution ,ELECTRONIC data processing ,OPEN source software - Abstract
Participatory sensing (PS) is a distributed data collection and analysis approach where individuals, acting alone or in groups, use their personal mobile devices to systematically explore interesting aspects of their lives and communities [Burke et al. 2006]. These mobile devices can be used to capture diverse spatiotemporal data through both intermittent self-report and continuous recording from on-board sensors and applications. Ohmage (http://ohmage.org) is a modular and extensible open-source, mobile to Web PS platform that records, stores, analyzes, and visualizes data from both prompted self-report and continuous data streams. These data streams are authorable and can dynamically be deployed in diverse settings. Feedback from hundreds of behavioral and technology researchers, focus group participants, and end users has been integrated into ohmage through an iterative participatory design process. Ohmage has been used as an enabling platform in more than 20 independent projects in many disciplines. We summarize the PS requirements, challenges and key design objectives learned through our design process, and ohmage system architecture to achieve those objectives. The flexibility, modularity, and extensibility of ohmage in supporting diverse deployment settings are presented through three distinct case studies in education, health, and clinical research. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
5. Changing word meanings in biomedical literature reveal pandemics and new technologies.
- Author
-
Nicholson DN, Alquaddoomi F, Rubinetti V, and Greene CS
- Abstract
While we often think of words as having a fixed meaning that we use to describe a changing world, words are also dynamic and changing. Scientific research can also be remarkably fast-moving, with new concepts or approaches rapidly gaining mind share. We examined scientific writing, both preprint and pre-publication peer-reviewed text, to identify terms that have changed and examine their use. One particular challenge that we faced was that the shift from closed to open access publishing meant that the size of available corpora changed by over an order of magnitude in the last two decades. We developed an approach to evaluate semantic shift by accounting for both intra- and inter-year variability using multiple integrated models. This analysis revealed thousands of change points in both corpora, including for terms such as 'cas9', 'pandemic', and 'sars'. We found that the consistent change-points between pre-publication peer-reviewed and preprinted text are largely related to the COVID-19 pandemic. We also created a web app for exploration that allows users to investigate individual terms ( https://greenelab.github.io/word-lapse/ ). To our knowledge, our research is the first to examine semantic shift in biomedical preprints and pre-publication peer-reviewed text, and provides a foundation for future work to understand how terms acquire new meanings and how peer review affects this process., (© 2023. The Author(s).)
- Published
- 2023
- Full Text
- View/download PDF
6. Hetnet connectivity search provides rapid insights into how two biomedical entities are related.
- Author
-
Himmelstein DS, Zietz M, Rubinetti V, Kloster K, Heil BJ, Alquaddoomi F, Hu D, Nicholson DN, Hao Y, Sullivan BD, Nagle MW, and Greene CS
- Abstract
Hetnets, short for "heterogeneous networks", contain multiple node and relationship types and offer a way to encode biomedical knowledge. One such example, Hetionet connects 11 types of nodes - including genes, diseases, drugs, pathways, and anatomical structures - with over 2 million edges of 24 types. Previous work has demonstrated that supervised machine learning methods applied to such networks can identify drug repurposing opportunities. However, a training set of known relationships does not exist for many types of node pairs, even when it would be useful to examine how nodes of those types are meaningfully connected. For example, users may be curious not only how metformin is related to breast cancer, but also how the GJA1 gene might be involved in insomnia. We developed a new procedure, termed hetnet connectivity search, that proposes important paths between any two nodes without requiring a supervised gold standard. The algorithm behind connectivity search identifies types of paths that occur more frequently than would be expected by chance (based on node degree alone). We find that predictions are broadly similar to those from previously described supervised approaches for certain node type pairs. Scoring of individual paths is based on the most specific paths of a given type. Several optimizations were required to precompute significant instances of node connectivity at the scale of large knowledge graphs. We implemented the method on Hetionet and provide an online interface at https://het.io/search . We provide an open source implementation of these methods in our new Python package named hetmatpy .
- Published
- 2023
- Full Text
- View/download PDF
7. Hetnet connectivity search provides rapid insights into how biomedical entities are related.
- Author
-
Himmelstein DS, Zietz M, Rubinetti V, Kloster K, Heil BJ, Alquaddoomi F, Hu D, Nicholson DN, Hao Y, Sullivan BD, Nagle MW, and Greene CS
- Subjects
- Probability, Algorithms
- Abstract
Background: Hetnets, short for "heterogeneous networks," contain multiple node and relationship types and offer a way to encode biomedical knowledge. One such example, Hetionet, connects 11 types of nodes-including genes, diseases, drugs, pathways, and anatomical structures-with over 2 million edges of 24 types. Previous work has demonstrated that supervised machine learning methods applied to such networks can identify drug repurposing opportunities. However, a training set of known relationships does not exist for many types of node pairs, even when it would be useful to examine how nodes of those types are meaningfully connected. For example, users may be curious about not only how metformin is related to breast cancer but also how a given gene might be involved in insomnia., Findings: We developed a new procedure, termed hetnet connectivity search, that proposes important paths between any 2 nodes without requiring a supervised gold standard. The algorithm behind connectivity search identifies types of paths that occur more frequently than would be expected by chance (based on node degree alone). Several optimizations were required to precompute significant instances of node connectivity at the scale of large knowledge graphs., Conclusion: We implemented the method on Hetionet and provide an online interface at https://het.io/search. We provide an open-source implementation of these methods in our new Python package named hetmatpy., (© The Author(s) 2023. Published by Oxford University Press GigaScience.)
- Published
- 2022
- Full Text
- View/download PDF
8. Building an international consortium for tracking coronavirus health status.
- Author
-
Segal E, Zhang F, Lin X, King G, Shalem O, Shilo S, Allen WE, Alquaddoomi F, Altae-Tran H, Anders S, Balicer R, Bauman T, Bonilla X, Booman G, Chan AT, Cohen O, Coletti S, Davidson N, Dor Y, Drew DA, Elemento O, Evans G, Ewels P, Gale J, Gavrieli A, Geiger B, Grad YH, Greene CS, Hajirasouliha I, Jerala R, Kahles A, Kallioniemi O, Keshet A, Kocarev L, Landua G, Meir T, Muller A, Nguyen LH, Oresic M, Ovchinnikova S, Peterson H, Prodanova J, Rajagopal J, Rätsch G, Rossman H, Rung J, Sboner A, Sigaras A, Spector T, Steinherz R, Stevens I, Vilo J, and Wilmes P
- Subjects
- COVID-19, Coronavirus Infections prevention & control, Coronavirus Infections virology, Health Status, Humans, Pandemics prevention & control, Pneumonia, Viral prevention & control, Pneumonia, Viral virology, SARS-CoV-2, Betacoronavirus pathogenicity, Coronavirus Infections epidemiology, Pandemics statistics & numerical data, Pneumonia, Viral epidemiology, Surveys and Questionnaires statistics & numerical data
- Published
- 2020
- Full Text
- View/download PDF
9. Publisher Correction: Building an international consortium for tracking coronavirus health status.
- Author
-
Segal E, Zhang F, Lin X, King G, Shalem O, Shilo S, Allen WE, Alquaddoomi F, Altae-Tran H, Anders S, Balicer R, Bauman T, Bonilla X, Booman G, Chan AT, Cohen O, Coletti S, Davidson N, Dor Y, Drew DA, Elemento O, Evans G, Ewels P, Gale J, Gavrieli A, Geiger B, Grad YH, Greene CS, Hajirasouliha I, Jerala R, Kahles A, Kallioniemi O, Keshet A, Kocarev L, Landua G, Meir T, Muller A, Nguyen LH, Oresic M, Ovchinnikova S, Peterson H, Prodanova J, Rajagopal J, Rätsch G, Rossman H, Rung J, Sboner A, Sigaras A, Spector T, Steinherz R, Stevens I, Vilo J, and Wilmes P
- Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
- Published
- 2020
- Full Text
- View/download PDF
10. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
- Author
-
Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M, Burn J, Chanock S, Rätsch G, and Spurdle AB
- Subjects
- Alleles, Breast Neoplasms genetics, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Information Dissemination ethics, Information Dissemination legislation & jurisprudence, Male, Mutation, Ovarian Neoplasms genetics, Penetrance, Phenotype, Risk Factors, Databases, Genetic ethics, Genes, BRCA1, Genes, BRCA2, Genetic Variation
- Abstract
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project's outset, of which approximately 7,250 have expert classifications. The data set is based on shared information from existing clinical databases-Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)-as well as population databases, all linked to a single point of access. The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2., Competing Interests: I have read the journal's policy and have the following conflicts: SEP is a member of the Scientific Advisory Board of Baylor Genetics, and is on the editorial board of PLOS Genetics. MR receives advisory fees, travel fees, and honoraria from AstraZeneca. The other authors have no competing interests to declare.
- Published
- 2018
- Full Text
- View/download PDF
11. Development of a text messaging system to improve receipt of survivorship care in adolescent and young adult survivors of childhood cancer.
- Author
-
Casillas J, Goyal A, Bryman J, Alquaddoomi F, Ganz PA, Lidington E, Macadangdang J, and Estrin D
- Subjects
- Adolescent, Adult, Child, Humans, Male, Neoplasms mortality, Survival Rate, Young Adult, Neoplasms therapy, Survivors psychology, Text Messaging statistics & numerical data
- Abstract
Purpose: This study aimed to develop and examine the acceptability, feasibility, and usability of a text messaging, or Short Message Service (SMS), system for improving the receipt of survivorship care for adolescent and young adult (AYA) survivors of childhood cancer., Methods: Researchers developed and refined the text messaging system based on qualitative data from AYA survivors in an iterative three-stage process. In stage 1, a focus group (n = 4) addressed acceptability; in stage 2, key informant interviews (n = 10) following a 6-week trial addressed feasibility; and in stage 3, key informant interviews (n = 23) following a 6-week trial addressed usability. Qualitative data were analyzed using a constant comparative analytic approach exploring in-depth themes., Results: The final system includes programmed reminders to schedule and attend late effect screening appointments, tailored suggestions for community resources for cancer survivors, and messages prompting participant feedback regarding the appointments and resources. Participants found the text messaging system an acceptable form of communication, the screening reminders and feedback prompts feasible for improving the receipt of survivorship care, and the tailored suggestions for community resources usable for connecting survivors to relevant services. Participants suggested supplementing survivorship care visits and forming AYA survivor social networks as future implementations for the text messaging system., Conclusions: The text messaging system may assist AYA survivors by coordinating late effect screening appointments, facilitating a partnership with the survivorship care team, and connecting survivors with relevant community resources., Implications for Cancer Survivors: The text messaging system has the potential to improve the receipt of survivorship care.
- Published
- 2017
- Full Text
- View/download PDF
12. Corrigendum to "DISTING: A web application for fast algorithmic computation of alternative indistinguishable linear compartmental models" [Computer Methods and Programs in Biomedicine 143 (2017) 129-135].
- Author
-
Davidson NR, Godfrey KR, Alquaddoomi F, Nola D, and DiStefano JJ 3rd
- Published
- 2017
- Full Text
- View/download PDF
13. DISTING: A web application for fast algorithmic computation of alternative indistinguishable linear compartmental models.
- Author
-
Davidson NR, Godfrey KR, Alquaddoomi F, Nola D, and DiStefano JJ 3rd
- Subjects
- Computer Simulation, Humans, Linear Models, Liver drug effects, Pharmaceutical Preparations, Sulfobromophthalein chemistry, Systems Biology, Algorithms, Computer Graphics, Internet, Software
- Abstract
Background and Objectives: We describe and illustrate use of DISTING, a novel web application for computing alternative structurally identifiable linear compartmental models that are input-output indistinguishable from a postulated linear compartmental model. Several computer packages are available for analysing the structural identifiability of such models, but DISTING is the first to be made available for assessing indistinguishability., Methods: The computational algorithms embedded in DISTING are based on advanced versions of established geometric and algebraic properties of linear compartmental models, embedded in a user-friendly graphic model user interface. Novel computational tools greatly speed up the overall procedure. These include algorithms for Jacobian matrix reduction, submatrix rank reduction, and parallelization of candidate rank computations in symbolic matrix analysis., Results: The application of DISTING to three postulated models with respectively two, three and four compartments is given. The 2-compartment example is used to illustrate the indistinguishability problem; the original (unidentifiable) model is found to have two structurally identifiable models that are indistinguishable from it. The 3-compartment example has three structurally identifiable indistinguishable models. It is found from DISTING that the four-compartment example has five structurally identifiable models indistinguishable from the original postulated model. This example shows that care is needed when dealing with models that have two or more compartments which are neither perturbed nor observed, because the numbering of these compartments may be arbitrary., Conclusions: DISTING is universally and freely available via the Internet. It is easy to use and circumvents tedious and complicated algebraic analysis previously done by hand., (Copyright © 2017 Elsevier B.V. All rights reserved.)
- Published
- 2017
- Full Text
- View/download PDF
14. Leveraging Multi-Modal Sensing for Mobile Health: A Case Review in Chronic Pain.
- Author
-
Aung MSH, Alquaddoomi F, Hsieh CK, Rabbi M, Yang L, Pollak JP, Estrin D, and Choudhury T
- Abstract
Active and passive mobile sensing has garnered much attention in recent years. In this paper, we focus on chronic pain measurement and management as a case application to exemplify the state of the art. We present a consolidated discussion on the leveraging of various sensing modalities along with modular server-side and on-device architectures required for this task. Modalities included are: activity monitoring from accelerometry and location sensing, audio analysis of speech, image processing for facial expressions as well as modern methods for effective patient self-reporting. We review examples that deliver actionable information to clinicians and patients while addressing privacy, usability, and computational constraints. We also discuss open challenges in the higher level inferencing of patient state and effective feedback with potential directions to address them. The methods and challenges presented here are also generalizable and relevant to a broad range of other applications in mobile sensing.
- Published
- 2016
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.