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Prediction performance and fairness heterogeneity in cardiovascular risk models.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16615-3
By:
- Kartoun, Uri;
- Khurshid, Shaan;
- Kwon, Bum Chul;
- Patel, Aniruddh P.;
- Batra, Puneet;
- Philippakis, Anthony;
- Khera, Amit V.;
- Ellinor, Patrick T.;
- Lubitz, Steven A.;
- Ng, Kenney
Publication type:
Article
Prediction performance and fairness heterogeneity in cardiovascular risk models.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16615-3
By:
- Kartoun, Uri;
- Khurshid, Shaan;
- Kwon, Bum Chul;
- Patel, Aniruddh P.;
- Batra, Puneet;
- Philippakis, Anthony;
- Khera, Amit V.;
- Ellinor, Patrick T.;
- Lubitz, Steven A.;
- Ng, Kenney
Publication type:
Article
Cross-modal autoencoder framework learns holistic representations of cardiovascular state.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38125-0
By:
- Radhakrishnan, Adityanarayanan;
- Friedman, Sam F.;
- Khurshid, Shaan;
- Ng, Kenney;
- Batra, Puneet;
- Lubitz, Steven A.;
- Philippakis, Anthony A.;
- Uhler, Caroline
Publication type:
Article
Cross-modal autoencoder framework learns holistic representations of cardiovascular state.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38125-0
By:
- Radhakrishnan, Adityanarayanan;
- Friedman, Sam F.;
- Khurshid, Shaan;
- Ng, Kenney;
- Batra, Puneet;
- Lubitz, Steven A.;
- Philippakis, Anthony A.;
- Uhler, Caroline
Publication type:
Article
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.
Published in:
Nature Communications, 2023, p. 1, doi. 10.1038/s41467-023-37173-w
By:
- Khurshid, Shaan;
- Lazarte, Julieta;
- Pirruccello, James P.;
- Weng, Lu-Chen;
- Choi, Seung Hoan;
- Hall, Amelia W.;
- Wang, Xin;
- Friedman, Samuel F.;
- Nauffal, Victor;
- Biddinger, Kiran J.;
- Aragam, Krishna G.;
- Batra, Puneet;
- Ho, Jennifer E.;
- Philippakis, Anthony A.;
- Ellinor, Patrick T.;
- Lubitz, Steven A.
Publication type:
Article
BMI-adjusted adipose tissue volumes exhibit depot-specific and divergent associations with cardiometabolic diseases.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35704-5
By:
- Agrawal, Saaket;
- Klarqvist, Marcus D. R.;
- Diamant, Nathaniel;
- Stanley, Takara L.;
- Ellinor, Patrick T.;
- Mehta, Nehal N.;
- Philippakis, Anthony;
- Ng, Kenney;
- Claussnitzer, Melina;
- Grinspoon, Steven K.;
- Batra, Puneet;
- Khera, Amit V.
Publication type:
Article
Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30931-2
By:
- Agrawal, Saaket;
- Wang, Minxian;
- Klarqvist, Marcus D. R.;
- Smith, Kirk;
- Shin, Joseph;
- Dashti, Hesam;
- Diamant, Nathaniel;
- Choi, Seung Hoan;
- Jurgens, Sean J.;
- Ellinor, Patrick T.;
- Philippakis, Anthony;
- Claussnitzer, Melina;
- Ng, Kenney;
- Udler, Miriam S.;
- Batra, Puneet;
- Khera, Amit V.
Publication type:
Article
The potential of polygenic scores to improve cost and efficiency of clinical trials.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30675-z
By:
- Fahed, Akl C.;
- Philippakis, Anthony A.;
- Khera, Amit V.
Publication type:
Article
Davos Alzheimer's Collaborative: Building a globally representative cohort through a technologically‐enabled approach.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 6, p. 1, doi. 10.1002/alz.065497
By:
- Au, Rhoda;
- Joung, Philip;
- Ho, Jor Sam;
- Albastaki, Omar;
- Thompson, Louisa I;
- Low, Spencer;
- Philippakis, Anthony;
- Levey, Allan I.
Publication type:
Article
Compact, universal DNA microarrays to comprehensively determine transcription-factor binding site specificities.
Published in:
Nature Biotechnology, 2006, v. 24, n. 11, p. 1429, doi. 10.1038/nbt1246
By:
- Berger, Michael F.;
- Philippakis, Anthony A.;
- Qureshi, Aaron M.;
- He, Fangxue S.;
- Estep, Preston W.;
- Bulyk, Martha L.
Publication type:
Article
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Published in:
Nature Genetics, 2011, v. 43, n. 8, p. 801, doi. 10.1038/ng.871
By:
- Shea, Jessica;
- Agarwala, Vineeta;
- Philippakis, Anthony A;
- Maguire, Jared;
- Banks, Eric;
- DePristo, Mark;
- Thomson, Brian;
- Guiducci, Candace;
- Onofrio, Robert C.;
- M. I. G.C.;
- Kathiresan, Sekar;
- Gabriel, Stacey;
- Burtt, Noël P.;
- Daly, Mark J.;
- Groop, Leif;
- Altshuler, David
Publication type:
Article
A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Published in:
Nature Genetics, 2011, v. 43, n. 5, p. 491, doi. 10.1038/ng.806
By:
- DePristo, Mark A.;
- Banks, Eric;
- Poplin, Ryan;
- Garimella, Kiran V.;
- Maguire, Jared R.;
- Hartl, Christopher;
- Philippakis, Anthony A.;
- del Angel, Guillermo;
- Rivas, Manuel A.;
- Hanna, Matt;
- McKenna, Aaron;
- Fennell, Tim J.;
- Kernytsky, Andrew M.;
- Sivachenko, Andrey Y.;
- Cibulskis, Kristian;
- Gabriel, Stacey B.;
- Altshuler, David;
- Daly, Mark J.
Publication type:
Article
Systematic identification of mammalian regulatory motifs' target genes and functions.
Published in:
Nature Methods, 2008, v. 5, n. 4, p. 347, doi. 10.1038/nmeth.1188
By:
- Warner, Jason B.;
- Philippakis, Anthony A.;
- Jaeger, Savina A.;
- He, Fangxue Sherry;
- Lin, Jolinta;
- Bulyk, Martha L.
Publication type:
Article
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis.
Published in:
Bioinformatics, 2022, v. 38, n. 11, p. 3116, doi. 10.1093/bioinformatics/btac272
By:
- Gaynor, Sheila M;
- Westerman, Kenneth E;
- Ackovic, Lea L;
- Li, Xihao;
- Li, Zilin;
- Manning, Alisa K;
- Philippakis, Anthony;
- Lin, Xihong
Publication type:
Article
Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41185-x
By:
- Deflaux, Nicole;
- Selvaraj, Margaret Sunitha;
- Condon, Henry Robert;
- Mayo, Kelsey;
- Haidermota, Sara;
- Basford, Melissa A.;
- Lunt, Chris;
- Philippakis, Anthony A.;
- Roden, Dan M.;
- Denny, Joshua C.;
- Musick, Anjene;
- Collins, Rory;
- Allen, Naomi;
- Effingham, Mark;
- Glazer, David;
- Natarajan, Pradeep;
- Bick, Alexander G.
Publication type:
Article
One Clinician Is All You Need-Cardiac Magnetic Resonance Imaging Measurement Extraction: Deep Learning Algorithm Development.
Published in:
JMIR Medical Informatics, 2022, v. 10, n. 9, p. 1, doi. 10.2196/38178
By:
- Singh, Pulkit;
- Haimovich, Julian;
- Reeder, Christopher;
- Khurshid, Shaan;
- Lau, Emily S.;
- Cunningham, Jonathan W.;
- Philippakis, Anthony;
- Anderson, Christopher D.;
- Ho, Jennifer E.;
- Lubitz, Steven A.;
- Batra, Puneet
Publication type:
Article
Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research.
Published in:
Journal of the American Medical Informatics Association, 2023, v. 30, n. 7, p. 1293, doi. 10.1093/jamia/ocad048
By:
- Ahalt, Stan;
- Avillach, Paul;
- Boyles, Rebecca;
- Bradford, Kira;
- Cox, Steven;
- Davis-Dusenbery, Brandi;
- Grossman, Robert L;
- Krishnamurthy, Ashok;
- Manning, Alisa;
- Paten, Benedict;
- Philippakis, Anthony;
- Borecki, Ingrid;
- Chen, Shu Hui;
- Kaltman, Jon;
- Ladwa, Sweta;
- Schwartz, Chip;
- Thomson, Alastair;
- Davis, Sarah;
- Leaf, Alison;
- Lyons, Jessica
Publication type:
Article
Inferring condition‐specific transcription factor function from DNA binding and gene expression data.
Published in:
2010
By:
- McCord, Rachel Patton;
- Berger, Michael F;
- Philippakis, Anthony A;
- Bulyk, Martha L
Publication type:
Correction Notice
Inferring condition-specific transcription factor function from DNA binding and gene expression data.
Published in:
Molecular Systems Biology, 2007, v. 3, n. 1, p. 100, doi. 10.1038/msb4100140
By:
- McCord, Rachel Patton;
- Berger, Michael F;
- Philippakis, Anthony A;
- Bulyk, Martha L
Publication type:
Article
Expression-Guided In Silico Evaluation of Candidate Cis Regulatory Codes for Drosophila Muscle Founder Cells.
Published in:
PLoS Computational Biology, 2006, v. 2, n. 5, p. e53, doi. 10.1371/journal.pcbi.0020053
By:
- Philippakis, Anthony A.;
- Busser, Brian W.;
- Gisselbrecht, Stephen S.;
- Fangxue Sherry He;
- Estrada, Beatriz;
- Michelson, Alan M.;
- Bulyk, Martha L.
Publication type:
Article
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Published in:
JAMA Network Open, 2020, v. 3, n. 4, p. e203959, doi. 10.1001/jamanetworkopen.2020.3959
By:
- Patel, Aniruddh P.;
- Wang, Minxian;
- Fahed, Akl C.;
- Mason-Suares, Heather;
- Brockman, Deanna;
- Pelletier, Renee;
- Amr, Sami;
- Machini, Kalotina;
- Hawley, Megan;
- Witkowski, Leora;
- Koch, Christopher;
- Philippakis, Anthony;
- Cassa, Christopher A.;
- Ellinor, Patrick T.;
- Kathiresan, Sekar;
- Ng, Kenney;
- Lebo, Matthew;
- Khera, Amit V.
Publication type:
Article
High-throughput RNA isoform sequencing using programmed cDNA concatenation.
Published in:
Nature Biotechnology, 2024, v. 42, n. 4, p. 582, doi. 10.1038/s41587-023-01815-7
By:
- Al'Khafaji, Aziz M.;
- Smith, Jonathan T.;
- Garimella, Kiran V.;
- Babadi, Mehrtash;
- Popic, Victoria;
- Sade-Feldman, Moshe;
- Gatzen, Michael;
- Sarkizova, Siranush;
- Schwartz, Marc A.;
- Blaum, Emily M.;
- Day, Allyson;
- Costello, Maura;
- Bowers, Tera;
- Gabriel, Stacey;
- Banks, Eric;
- Philippakis, Anthony A.;
- Boland, Genevieve M.;
- Blainey, Paul C.;
- Hacohen, Nir
Publication type:
Article
Digital phenotyping: An equal opportunity approach to reducing disparities in Alzheimer's disease and related dementia research.
Published in:
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2023, v. 15, n. 4, p. 1, doi. 10.1002/dad2.12495
By:
- Britton, Gabrielle B.;
- Huang, Li‐Kai;
- Villarreal, Alcibiades E.;
- Levey, Allan;
- Philippakis, Anthony;
- Hu, Chaur‐Jong;
- Yang, Cheng Chang;
- Mushi, Declare;
- Oviedo, Diana C.;
- Rangel, Giselle;
- Ho, Jor Sam;
- Thompson, Louisa;
- Khemakhem, Mahdi;
- Ross, Makayla;
- Carreira, María B.;
- Kim, Nicole;
- Joung, Philip;
- Albastaki, Omar;
- Kuo, Po Chih;
- Low, Spencer
Publication type:
Article
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
Published in:
Nucleic Acids Research, 2023, v. 51, n. D1, p. D1300, doi. 10.1093/nar/gkac966
By:
- Zhou, Hufeng;
- Arapoglou, Theodore;
- Li, Xihao;
- Li, Zilin;
- Zheng, Xiuwen;
- Moore, Jill;
- Asok, Abhijith;
- Kumar, Sushant;
- Blue, Elizabeth E;
- Buyske, Steven;
- Cox, Nancy;
- Felsenfeld, Adam;
- Gerstein, Mark;
- Kenny, Eimear;
- Li, Bingshan;
- Matise, Tara;
- Philippakis, Anthony;
- Rehm, Heidi L;
- Sofia, Heidi J;
- Snyder, Grace
Publication type:
Article
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655
By:
- Arachchi, Harindra;
- Wojcik, Monica H;
- Weisburd, Benjamin;
- Jacobsen, Julius O. B.;
- Valkanas, Elise;
- Baxter, Samantha;
- Byrne, Alicia B.;
- O'Donnell‐Luria, Anne H.;
- Haendel, Melissa;
- Smedley, Damian;
- MacArthur, Daniel G.;
- Philippakis, Anthony A.;
- Rehm, Heidi L.
Publication type:
Article
'Matching' consent to purpose: The example of the Matchmaker Exchange.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1281, doi. 10.1002/humu.23278
By:
- Dyke, Stephanie O. M.;
- Knoppers, Bartha M.;
- Hamosh, Ada;
- Firth, Helen V.;
- Hurles, Matthew;
- Brudno, Michael;
- Boycott, Kym M.;
- Philippakis, Anthony A.;
- Rehm, Heidi L.
Publication type:
Article
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
By:
- Philippakis, Anthony A.;
- Azzariti, Danielle R.;
- Beltran, Sergi;
- Brookes, Anthony J.;
- Brownstein, Catherine A.;
- Brudno, Michael;
- Brunner, Han G.;
- Buske, Orion J.;
- Carey, Knox;
- Doll, Cassie;
- Dumitriu, Sergiu;
- Dyke, Stephanie O.M.;
- den Dunnen, Johan T.;
- Firth, Helen V.;
- Gibbs, Richard A.;
- Girdea, Marta;
- Gonzalez, Michael;
- Haendel, Melissa A.;
- Hamosh, Ada;
- Holm, Ingrid A.
Publication type:
Article
Exploring the link between Gilbert's syndrome and atherosclerotic cardiovascular disease: insights from a subpopulation-based analysis of over one million individuals.
Published in:
European Heart Journal Open, 2023, v. 3, n. 3, p. 1, doi. 10.1093/ehjopen/oead059
By:
- Kartoun, Uri;
- Fahed, Akl C;
- Kany, Shinwan;
- Singh, Pulkit;
- Khurshid, Shaan;
- Patel, Aniruddh P;
- Batra, Puneet;
- Philippakis, Anthony;
- Khera, Amit V;
- Lubitz, Steven A;
- Ellinor, Patrick T;
- Anand, Vibha;
- Ng, Kenney
Publication type:
Article
Silhouette images enable estimation of body fat distribution and associated cardiometabolic risk.
Published in:
NPJ Digital Medicine, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s41746-022-00654-1
By:
- Klarqvist, Marcus D. R.;
- Agrawal, Saaket;
- Diamant, Nathaniel;
- Ellinor, Patrick T.;
- Philippakis, Anthony;
- Ng, Kenney;
- Batra, Puneet;
- Khera, Amit V.
Publication type:
Article
Deep learning of left atrial structure and function provides link to atrial fibrillation risk.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48229-w
By:
- Pirruccello, James P.;
- Di Achille, Paolo;
- Choi, Seung Hoan;
- Rämö, Joel T.;
- Khurshid, Shaan;
- Nekoui, Mahan;
- Jurgens, Sean J.;
- Nauffal, Victor;
- Kany, Shinwan;
- FinnGen;
- Ng, Kenney;
- Friedman, Samuel F.;
- Batra, Puneet;
- Lunetta, Kathryn L.;
- Palotie, Aarno;
- Philippakis, Anthony A.;
- Ho, Jennifer E.;
- Lubitz, Steven A.;
- Ellinor, Patrick T.
Publication type:
Article
Predicting the binding preference of transcription factors to individual DNA k-mers.
Published in:
Bioinformatics, 2009, v. 25, n. 8, p. 1012, doi. 10.1093/bioinformatics/btn645
By:
- Trevis M. Alleyne;
- Lourdes PeÃ±a-Castillo;
- Gwenael Badis;
- Shaheynoor Talukder;
- Michael F. Berger;
- Andrew R. Gehrke;
- Anthony A. Philippakis;
- Martha L. Bulyk;
- Quaid D. Morris;
- Timothy R. Hughes
Publication type:
Article
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-17374-3
By:
- Fahed, Akl C.;
- Wang, Minxian;
- Homburger, Julian R.;
- Patel, Aniruddh P.;
- Bick, Alexander G.;
- Neben, Cynthia L.;
- Lai, Carmen;
- Brockman, Deanna;
- Philippakis, Anthony;
- Ellinor, Patrick T.;
- Cassa, Christopher A.;
- Lebo, Matthew;
- Ng, Kenney;
- Lander, Eric S.;
- Zhou, Alicia Y.;
- Kathiresan, Sekar;
- Khera, Amit V.
Publication type:
Article
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15823-7
By:
- Pirruccello, James P.;
- Bick, Alexander;
- Wang, Minxian;
- Chaffin, Mark;
- Friedman, Samuel;
- Yao, Jie;
- Guo, Xiuqing;
- Venkatesh, Bharath Ambale;
- Taylor, Kent D.;
- Post, Wendy S.;
- Rich, Stephen;
- Lima, Joao A. C.;
- Rotter, Jerome I.;
- Philippakis, Anthony;
- Lubitz, Steven A.;
- Ellinor, Patrick T.;
- Khera, Amit V.;
- Kathiresan, Sekar;
- Aragam, Krishna G.
Publication type:
Article
Consent Codes: Upholding Standard Data Use Conditions.
Published in:
PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005772
By:
- Dyke, Stephanie O. M.;
- Philippakis, Anthony A.;
- Rambla De Argila, Jordi;
- Paltoo, Dina N.;
- Luetkemeier, Erin S.;
- Knoppers, Bartha M.;
- Brookes, Anthony J.;
- Spalding, J. Dylan;
- Thompson, Mark;
- Roos, Marco;
- Boycott, Kym M.;
- Brudno, Michael;
- Hurles, Matthew;
- Rehm, Heidi L.;
- Matern, Andreas;
- Fiume, Marc;
- Sherry, Stephen T.
Publication type:
Article

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