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ArticlesPeer ReviewedFull Text
Functionally informed fine-mapping and polygenic localization of complex trait heritability
Author / Creator:Weissbrod, Omer ; Hormozdiari, Farhad ; Benner, Christian ; Cui, Ran ; Ulirsch, Jacob ; Gazal, Steven ; Schoech, Armin P. ; van de Geijn, Bryce ; Reshef, Yakir ; Márquez-Luna, Carla ; O’Connor, Luke ; Pirinen, Matti ; Finucane, Hilary K. ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2020-12, Vol.52 (12), p.1355-1363
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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
Author / Creator:Finucane, Hilary K. ; Reshef, Yakir A. ; Anttila, Verneri ; Slowikowski, Kamil ; Gusev, Alexander ; Byrnes, Andrea ; Gazal, Steven ; Loh, Po-Ru ; Lareau, Caleb ; Shoresh, Noam ; Genovese, Giulio ; Saunders, Arpiar ; Macosko, Evan ; Pollack, Samuela ; Perry, John R. B. ; Buenrostro, Jason D. ; Bernstein, Bradley E. ; Raychaudhuri, Soumya ; McCarroll, Steven ; Neale, Benjamin M. ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-04, Vol.50 (4), p.621-629
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Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations
Author / Creator:Gazal, Steven ; Loh, Po-Ru ; Finucane, Hilary K. ; Ganna, Andrea ; Schoech, Armin ; Sunyaev, Shamil ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-11, Vol.50 (11), p.1600-1607
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ArticlesPeer ReviewedFull Text
Liability threshold modeling of case–control status and family history of disease increases association power
Author / Creator:Hujoel, Margaux L. A. ; Gazal, Steven ; Loh, Po-Ru ; Patterson, Nick ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2020-05, Vol.52 (5), p.541-547
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Population-specific causal disease effect sizes in functionally important regions impacted by selection
Author / Creator:Shi, Huwenbo ; Gazal, Steven ; Kanai, Masahiro ; Koch, Evan M. ; Schoech, Armin P. ; Siewert, Katherine M. ; Kim, Samuel S. ; Luo, Yang ; Amariuta, Tiffany ; Huang, Hailiang ; Okada, Yukinori ; Raychaudhuri, Soumya ; Sunyaev, Shamil R. ; Price, Alkes L.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-02, Vol.12 (1), p.1098-15, Article 1098
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ArticlesPeer ReviewedFull Text
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits
Author / Creator:Hormozdiari, Farhad ; Gazal, Steven ; van de Geijn, Bryce ; Finucane, Hilary K. ; Ju, Chelsea J.-T. ; Loh, Po-Ru ; Schoech, Armin ; Reshef, Yakir ; Liu, Xuanyao ; O’Connor, Luke ; Gusev, Alexander ; Eskin, Eleazar ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-07, Vol.50 (7), p.1041-1047
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ArticlesPeer ReviewedFull Text
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
Author / Creator:Schoech, Armin P. ; Jordan, Daniel M. ; Loh, Po-Ru ; Gazal, Steven ; O’Connor, Luke J. ; Balick, Daniel J. ; Palamara, Pier F. ; Finucane, Hilary K. ; Sunyaev, Shamil R. ; Price, Alkes L.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-02, Vol.10 (1), p.790-790, Article 790
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ArticlesPeer ReviewedFull Text
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Author / Creator:Aubart, Melodie ; Gazal, Steven ; Arnaud, Pauline ; Benarroch, Louise ; Gross, Marie-Sylvie ; Buratti, Julien ; Boland, Anne ; Meyer, Vincent ; Zouali, Habib ; Hanna, Nadine ; Milleron, Olivier ; Stheneur, Chantal ; Bourgeron, Thomas ; Desguerre, Isabelle ; Jacob, Marie-Paule ; Gouya, Laurent ; Génin, Emmanuelle ; Deleuze, Jean-François ; Jondeau, Guillaume ; Boileau, Catherine
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1759-1772
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ArticlesPeer ReviewedFull Text
The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population
Author / Creator:Borie, Raphael ; Crestani, Bruno ; Dieude, Philippe ; Nunes, Hilario ; Allanore, Yannick ; Kannengiesser, Caroline ; Airo, Paolo ; Matucci-Cerinic, Marco ; Wallaert, Benoit ; Israel-Biet, Dominique ; Cadranel, Jacques ; Cottin, Vincent ; Gazal, Steven ; Peljto, Anna L. ; Varga, John ; Schwartz, David A. ; Valeyre, Dominique ; Grandchamp, Bernard
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e70621-e70621
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ArticlesPeer ReviewedFull Text
The lingering effects of Neanderthal introgression on human complex traits
Author / Creator:Wei, Xinzhu ; Robles, Christopher R ; Pazokitoroudi, Ali ; Ganna, Andrea ; Gusev, Alexander ; Durvasula, Arun ; Gazal, Steven ; Loh, Po-Ru ; Reich, David ; Sankararaman, Sriram
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2023-03, Vol.12
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ArticlesPeer ReviewedFull Text
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
Author / Creator:Kim, Samuel S. ; Dey, Kushal K. ; Weissbrod, Omer ; Márquez-Luna, Carla ; Gazal, Steven ; Price, Alkes L.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-12, Vol.11 (1), p.6258-6258, Article 6258
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ArticlesPeer ReviewedFull Text
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
Author / Creator:Reshef, Yakir A. ; Finucane, Hilary K. ; Kelley, David R. ; Gusev, Alexander ; Kotliar, Dylan ; Ulirsch, Jacob C. ; Hormozdiari, Farhad ; Nasser, Joseph ; O’Connor, Luke ; van de Geijn, Bryce ; Loh, Po-Ru ; Grossman, Sharon R. ; Bhatia, Gaurav ; Gazal, Steven ; Palamara, Pier Francesco ; Pinello, Luca ; Patterson, Nick ; Adams, Ryan P. ; Price, Alkes L
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-10, Vol.50 (10), p.1483-1493
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ArticlesPeer ReviewedFull Text
High level of inbreeding in final phase of 1000 Genomes Project
Author / Creator:Gazal, Steven ; Sahbatou, Mourad ; Babron, Marie-Claude ; Génin, Emmanuelle ; Leutenegger, Anne-Louise
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2015-12, Vol.5 (1), p.17453-17453, Article 17453
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ArticlesPeer ReviewedFull Text
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Author / Creator:Gazal, Steven ; Weissbrod, Omer ; Hormozdiari, Farhad ; Dey, Kushal K. ; Nasser, Joseph ; Jagadeesh, Karthik A. ; Weiner, Daniel J. ; Shi, Huwenbo ; Fulco, Charles P. ; O’Connor, Luke J. ; Pasaniuc, Bogdan ; Engreitz, Jesse M. ; Price, Alkes L.
Journal title:Nature genetics, 2022-06, Vol.54 (6), p.827-836
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ArticlesPeer ReviewedFull Text
Functional disease architectures reveal unique biological role of transposable elements
Author / Creator:Hormozdiari, Farhad ; van de Geijn, Bryce ; Nasser, Joseph ; Weissbrod, Omer ; Gazal, Steven ; Ju, Chelsea J. -T. ; Connor, Luke O’ ; Hujoel, Margaux L. A. ; Engreitz, Jesse ; Hormozdiari, Fereydoun ; Price, Alkes L.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-09, Vol.10 (1), p.4054-8, Article 4054
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ArticlesPeer ReviewedFull Text
Mixed-model association for biobank-scale datasets
Author / Creator:Loh, Po-Ru ; Kichaev, Gleb ; Gazal, Steven ; Schoech, Armin P. ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-07, Vol.50 (7), p.906-908
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ArticlesPeer ReviewedFull Text
Reconciling S-LDSC and LDAK functional enrichment estimates
Author / Creator:Gazal, Steven ; Marquez-Luna, Carla ; Finucane, Hilary K. ; Price, Alkes L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2019-08, Vol.51 (8), p.1202-1204
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Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection
Author / Creator:Gazal, Steven ; Finucane, Hilary K ; Furlotte, Nicholas A ; Loh, Po-Ru ; Palamara, Pier Francesco ; Liu, Xuanyao ; Schoech, Armin ; Bulik-Sullivan, Brendan ; Neale, Benjamin M ; Gusev, Alexander ; Price, Alkes L
Publisher:New York: Springer New York
Journal title:Nature genetics, 2017-10, Vol.49 (10), p.1421-1427
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Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
Author / Creator:Jagadeesh, Karthik A. ; Dey, Kushal K. ; Montoro, Daniel T. ; Mohan, Rahul ; Gazal, Steven ; Engreitz, Jesse M. ; Xavier, Ramnik J. ; Price, Alkes L. ; Regev, Aviv
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2022-10, Vol.54 (10), p.1479-1492
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Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits
Author / Creator:Evans, Luke M. ; Tahmasbi, Rasool ; Vrieze, Scott I. ; Abecasis, Gonçalo R. ; Das, Sayantan ; Gazal, Steven ; Bjelland, Douglas W. ; de Candia, Teresa R. ; Goddard, Michael E. ; Neale, Benjamin M. ; Yang, Jian ; Visscher, Peter M. ; Keller, Matthew C.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-05, Vol.50 (5), p.737-745
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Functionally informed fine-mapping and polygenic localization of complex trait heritability

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

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Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

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Liability threshold modeling of case–control status and family history of disease increases association power

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Population-specific causal disease effect sizes in functionally important regions impacted by selection

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Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

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Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

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The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

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The lingering effects of Neanderthal introgression on human complex traits

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Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

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High level of inbreeding in final phase of 1000 Genomes Project

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Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

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Functional disease architectures reveal unique biological role of transposable elements

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Mixed-model association for biobank-scale datasets

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Reconciling S-LDSC and LDAK functional enrichment estimates

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Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

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Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

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Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

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