Showing 25 of 231 results

• Publication

  released

  Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants

  Thomsen SK, Ceroni A, van de Bunt M, et al.

  December 2016;(65(12)):3805-3811.

  • PMID:27554474
  • doi:10.2337/db16-0361

• Publication

  released

  Primary osteoarthritis chondrocyte map of chromatin conformation reveals novel candidate effector genes

  Norbert Bittner, Chenfu Shi, Danyun Zhao, et al.

  Ann Rheum Dis. 2024-03-13;:ard-2023-224945.

  • PMID:38479789
  • doi:10.1136/ard-2023-224945

• Publication

  released

  An integrated map of cell type-specific gene expression in pancreatic islets

  Ruth M Elgamal, Parul Kudtarkar, Rebecca L Melton, et al.

  Diabetes. 2023-15-08;(db230130)

  • PMID:37582230
  • doi:10.2337/db23-0130

• Publication

  released

  Deconstruction of rheumatoid arthritis synovium defines inflammatory subtypes

  Fan Zhang, Anna Helena Jonsson, Aparna Nathan, et al.

  Nature. 2023-11-08;623(7987):616-624.

  • doi:10.1038/s41586-023-06708-y
  • PMID:37938773
  • PMCID:PMC10651487

  URL: https://doi.org/10.7303/syn52297840

  Data summary: CITE-seq single-cell expression matrices and sequencing and bulk expression matrices are available…See more

  URL: https://arkportal.synapse.org/Explore/Datasets/DetailsPage?id=syn52297840

  Data summary: Associated genotype and clinical data are available through the Arthritis and Autoimmune and…See more

  URL: https://immunogenomics.io/ampra2/

  Data summary: A cell browser website is available to visualize our data and results.

  Data summary: AMP Phase 1 single-cell data from ref. 8 are available on Immport (SDY998). PEAC clinical trial…See more

  URL: https://github.com/Immunogenomics/RA_Atlas_CITEseq/

  Data summary: The source code for the analyses is available at GitHub

  URL: https://zenodo.org/record/8118599

  Data summary: The source code for the analyses is available at zenodo

• Publication

  released

  Dynamic network-guided CRISPRi screen identifies CTCF-loop-constrained nonlinear enhancer gene regulatory activity during cell state transitions

  Renhe Luo, Jielin Yan, Jin Woo Oh, et al.

  at Genet. 2023-07-24;55(8):1336-1346.

  • doi:10.1038/s41588-023-01450-7
  • PMID:37488417

  Available supplemental data: website

  Data summary: The parental HUES8 hESC line was obtained from Harvard University under a material transfer…See more

• Publication

  released

  Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression

  Katia K. Mattis, Nicole A. J. Krentz, Christoph Metzendorf, et al.

  Diabetologia. 2023-01-12;

  • doi:10.1007/s00125-022-05856-6
  • PMID:36633628

• Publication

  released

  Dynamic chromatin organization and regulatory interactions in human endothelial cell differentiation

  Kris G Alavattam, Katie A Mitzelfelt, Giancarlo Bonora, et al.

  Stem Cell Reports. 2023-01-10;18(1):159-174.

  • doi:10.1016/j.stemcr.2022.11.003
  • PMID:36493778
  • PMCID:PMC9860068

  Available supplemental data: website

  URL: https://data.4dnucleome.org/Alavattam-Mitzelfelt-endothelial-differentiation-chromatin

  Data summary: Data have been deposited in the 4DN data portal and are publicly available at…See more

  Available supplemental data: website

  Data summary: Previously published CM differentiation data are available from GEO: GSE106690 (Bertero et al.,…See more

  Available supplemental data: website

  URL: https://github.com/Noble-Lab/

  Data summary: Source code for analyses performed in this study is available at…See more

• Publication

  released

  A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk

  Antje K Rottner, Yingying Ye, Elena Navarro-Guerrero, et al.

  Nat Genet. 2022-12-21;55(1):54-65.

  • doi:10.1038/s41588-022-01261-2
  • PMID:36543916
  • PMCID:PMC9839450

  URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9839450/

  Available supplemental data: website

  File format: text

  URL: https://hugeamp.org:8000/research.html?pageid=beta_cell_249

  Data summary: Pancreatic beta cell function and type 2 diabetes predicted effector genes (Rottner AK et al., 2023)

• Publication

  released

  Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines

  Paola Benaglio, Han Zhu, Mei-Lin Okino, et al.

  Cell Genomics. 2022-12-14;2(12):100214.

  • doi:10.1016/j.xgen.2022.100214
  • PMID:36778047
  • PMCID:PMC9903835

• Publication

  released

  Long-range chromosomal interactions increase and mark repressed gene expression during adipogenesis

  Kristina M Garske, Caroline Comenho, David Z Pan, et al.

  Epigenetics. 2022-12-01;17(13):1849-1862.

  Available supplemental data: website

  File format: other format

  URL: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE129574

  Data summary: Assay for transposase accessible chromatin (ATAC) -seq libraries were produced from human primary…See more

• Publication

  released

  Single-cell gene expression and chromatin accessibility profiling of human pancreatic islets at basal and stimulatory conditions nominates mechanisms of type 1 diabetes genetic risk

  Ricardo D’Oliveira Albanus, Xuming Tang, Henry J. Taylor, et al.

  bioRxiv. 2022-11-14;

  • doi:10.1101/2022.11.12.516291

• Publication

  released

  Human prefrontal cortex gene regulatory dynamics from gestation to adulthood at single-cell resolution

  Charles A Herring, Rebecca K Simmons, Saskia Freytag, et al.

  Cell. 2022-10-31;185(23):4428-4447.

  • doi:10.1016/j.cell.2022.09.039
  • PMID:36318921

  Available supplemental data: website

  File format: other format

  URL: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE168408

  Data summary: Single-nuclei RNA-seq and single-nuclei ATAC-seq data have been deposited at GEO under accession…See more

  Available supplemental data: website

  URL: http://brain.listerlab.org/

  Data summary: Accompanying interactive browsers for this study are available at http://brain.listerlab.org.

  Available supplemental data: website

  URL: http://development.psychencode.org/

  Data summary: All data for the Velmeshev et al. study is publicly available through the Sequence Read Archive,…See more

  Available supplemental data: website

  URL: https://www.sciencedirect.com/science/article/pii/S0092867422012582?via%3Dihub#sec4.1

  Data summary: All original code has been deposited at Zenodo and is publicly available as of the date of…See more

  Available supplemental data: website

  URL: https://www.sciencedirect.com/science/article/pii/S0092867422012582?via%3Dihub#sec4.2.1

  Data summary: Any additional information required to reanalyze the data reported in this work paper is available…See more

• Publication

  released

  Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex

  Ana Uzquiano, Amanda J Kedaigle, Martina Pigoni, et al.

  Cell. 2022-09-29;185(20):3770-3788.e27.

  • doi:10.1016/j.cell.2022.09.010
  • PMID:36179669
  • PMCID:PMC9990683

  Available supplemental data: website

  URL: https://www.synapse.org

  Data summary: Read-level data from scRNA-seq, scATAC-seq, SHARE-seq, and Slide-seq data, supporting the findings…See more

  Available supplemental data: website

  URL: https://singlecell.broadinstitute.org/single_cell/study/SCP1756

  Data summary: The count-level data and meta-data have been deposited at the Single Cell Portal.

  Available supplemental data: website

  URL: https://doi.org/10.17632/7cxccpv4hg.1

  Data summary: Supplemental data related to Figures 1, ​,3,3, ​,4,4, ​,5,5, ​,6,6, and ​and77 has been deposited…See more

  Available supplemental data: website

  URL: https://github.com/AmandaKedaigle/OrganoidAtlas

  Data summary: Code used during data analysis is available at GitHub. d Any additional information required to…See more

  Available supplemental data: website

  URL: http://solo.bmap.ucla.edu/shiny/webapp/

  Data summary: Data from previous publications that was used in this study can be found at the Gene Expression…See more

• Publication

  released

  Genetic regulation of RNA splicing in human pancreatic islets

  Goutham Atla, Silvia Bonàs-Guarch, Mirabai Cuenca-Ardura, et al.

  Genome Biol. 2022-09-15;23(1):196.

  • doi:10.1186/s13059-022-02757-0
  • PMID:36109769
  • PMCID:PMC9479353

  URL: https://genomebiology.biomedcentral.com/articles/10.1186/s13059-022-02757-0#Sec36

  Available supplemental data: website

  File format: text

  URL: https://zenodo.org/record/6546807#.Y-wbZi-B39B

• Publication

  released

  The developmental impacts of natural selection on human pelvic morphology

  Mariel Young, Daniel Richard, Mark Grabowski, et al.

  Sci Adv. 2022-08-19;8(33):eabq4884.

  • doi:10.1126/sciadv.abq4884
  • PMID:35977020
  • PMCID:PMC9385149

• Publication

  released

  Single-nucleus chromatin accessibility profiling highlights distinct astrocyte signatures in progressive supranuclear palsy and corticobasal degeneration

  Nils Briel, Viktoria C. Ruf, Katrin Pratsch, et al.

  Acta Neuropathol. 2022-08-17;144(4):615–635.

  • doi:10.1007/s00401-022-02483-8
  • PMID:35976433
  • PMCID:PMC9468099

  Available supplemental data: website

  URL: https://github.com/nes-b/snATAC-seq_psp_cbd

  Data summary: All scripts for pre-processing and analyzing the snATAC-seq data from PSP/CBD frontal cortex and…See more

• Publication

  released

  A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

  Shweta Ramdas,Jonathan Judd,Sarah E Graham,Stavroula Kanoni,Yuxuan Wang,Ida Surakka,Brandon Wenz,Shoa L Clarke,Alessandra Chesi,Andrew Wells,Konain Fatima Bhatti,Sailaja Vedantam,Thomas W Winkler,Adam E Locke,Eirini Marouli,Greg J M Zajac,Kuan-Han H Wu,Ioanna Ntalla,Qin Hui,Derek Klarin,Austin T Hilliard,Zeyuan Wang,Chao Xue,Gudmar Thorleifsson,Anna Helgadottir,Daniel F Gudbjartsson,Hilma Holm,Isleifur Olafsson,Mi Yeong Hwang,Sohee Han,Masato Akiyama,Saori Sakaue,Chikashi Terao,Masahiro Kanai,Wei Zhou,Ben M Brumpton,Humaira Rasheed,Aki S Havulinna,Yogasudha Veturi,Jennifer Allen Pacheco,Elisabeth A Rosenthal,Todd Lingren,QiPing Feng,Iftikhar J Kullo,Akira Narita,Jun Takayama,Hilary C Martin,Karen A Hunt,Bhavi Trivedi,Jeffrey Haessler,Franco Giulianini,Yuki Bradford,Jason E Miller,Archie Campbell,Kuang Lin,Iona Y Millwood,Asif Rasheed,George Hindy,Jessica D Faul,Wei Zhao,David R Weir,Constance Turman,Hongyan Huang,Mariaelisa Graff,Ananyo Choudhury,Dhriti Sengupta,Anubha Mahajan,Michael R Brown,Weihua Zhang,Ketian Yu,Ellen M Schmidt,Anita Pandit,Stefan Gustafsson,Xianyong Yin,Jian'an Luan,Jing-Hua Zhao,Fumihiko Matsuda,Hye-Mi Jang,Kyungheon Yoon,Carolina Medina-Gomez,Achilleas Pitsillides,Jouke Jan Hottenga,Andrew R Wood,Yingji Ji,Zishan Gao,Simon Haworth,Ruth E Mitchell,Jin Fang Chai,Mette Aadahl,Anne A Bjerregaard,Jie Yao,Ani Manichaikul,Wen-Jane Lee,Chao Agnes Hsiung,Helen R Warren,Julia Ramirez,Jette Bork-Jensen,Line L Kårhus,Anuj Goel,Maria Sabater-Lleal,Raymond Noordam,Pala Mauro,Floris Matteo,Aaron F McDaid,Pedro Marques-Vidal,Matthias Wielscher,Stella Trompet,Naveed Sattar,Line T Møllehave,Matthias Munz,Lingyao Zeng,Jianfeng Huang,Bin Yang,Alaitz Poveda,Azra Kurbasic,Sebastian Schönherr,Lukas Forer,Markus Scholz,Tessel E Galesloot,Jonathan P Bradfield,Sanni E Ruotsalainen,E Warwick Daw,Joseph M Zmuda,Jonathan S Mitchell,Christian Fuchsberger,Henry Christensen,Jennifer A Brody,Phuong Le,Mary F Feitosa,Mary K Wojczynski,Daiane Hemerich,Michael Preuss,Massimo Mangino,Paraskevi Christofidou,Niek Verweij,Jan W Benjamins,Jorgen Engmann,Tsao L Noah,Anurag Verma,Roderick C Slieker,Ken Sin Lo,Nuno R Zilhao,Marcus E Kleber,Graciela E Delgado,Shaofeng Huo,Daisuke D Ikeda,Hiroyuki Iha,Jian Yang,Jun Liu,Ayşe Demirkan,Hampton L Leonard,Jonathan Marten,Carina Emmel,Börge Schmidt,Laura J Smyth,Marisa Cañadas-Garre,Chaolong Wang,Masahiro Nakatochi,Andrew Wong,Nina Hutri-Kähönen,Xueling Sim,Rui Xia,Alicia Huerta-Chagoya,Juan Carlos Fernandez-Lopez,Valeriya Lyssenko,Suraj S Nongmaithem,Alagu Sankareswaran,Marguerite R Irvin,Christopher Oldmeadow,Han-Na Kim,Seungho Ryu,Paul R H J Timmers,Liubov Arbeeva,Rajkumar Dorajoo,Leslie A Lange,Gauri Prasad,Laura Lorés-Motta,Marc Pauper,Jirong Long,Xiaohui Li,Elizabeth Theusch,Fumihiko Takeuchi,Cassandra N Spracklen,Anu Loukola,Sailalitha Bollepalli,Sophie C Warner,Ya Xing Wang,Wen B Wei,Teresa Nutile,Daniela Ruggiero,Yun Ju Sung,Shufeng Chen,Fangchao Liu,Jingyun Yang,Katherine A Kentistou,Bernhard Banas,Anna Morgan,Karina Meidtner,Lawrence F Bielak,Jennifer A Smith,Prashantha Hebbar,Aliki-Eleni Farmaki,Edith Hofer,Maoxuan Lin,Maria Pina Concas,Simona Vaccargiu,Peter J van der Most,Niina Pitkänen,Brian E Cade,Sander W van der Laan,Kumaraswamy Naidu Chitrala,Stefan Weiss,Amy R Bentley,Ayo P Doumatey,Adebowale A Adeyemo,Jong Young Lee,Eva R B Petersen,Aneta A Nielsen,Hyeok Sun Choi,Maria Nethander,Sandra Freitag-Wolf,Lorraine Southam,Nigel W Rayner,Carol A Wang,Shih-Yi Lin,Jun-Sing Wang,Christian Couture,Leo-Pekka Lyytikäinen,Kjell Nikus,Gabriel Cuellar-Partida,Henrik Vestergaard,Bertha Hidalgo,Olga Giannakopoulou,Qiuyin Cai,Morgan O Obura,Jessica van Setten,Karen Y He,Hua Tang,Natalie Terzikhan,Jae Hun Shin,Rebecca D Jackson,Alexander P Reiner,Lisa Warsinger Martin,Zhengming Chen,Liming Li,Takahisa Kawaguchi,Joachim Thiery,Joshua C Bis,Lenore J Launer,Huaixing Li,Mike A Nalls,Olli T Raitakari,Sahoko Ichihara,Sarah H Wild,Christopher P Nelson,Harry Campbell,Susanne Jäger,Toru Nabika,Fahd Al-Mulla,Harri Niinikoski,Peter S Braund,Ivana Kolcic,Peter Kovacs,Tota Giardoglou,Tomohiro Katsuya,Dominique de Kleijn,Gert J de Borst,Eung Kweon Kim,Hieab H H Adams,M Arfan Ikram,Xiaofeng Zhu,Folkert W Asselbergs,Adriaan O Kraaijeveld,Joline W J Beulens,Xiao-Ou Shu,Loukianos S Rallidis,Oluf Pedersen,Torben Hansen,Paul Mitchell,Alex W Hewitt,Mika Kähönen,Louis Pérusse,Claude Bouchard,Anke Tönjes,Yii-Der Ida Chen,Craig E Pennell,Trevor A Mori,Wolfgang Lieb,Andre Franke,Claes Ohlsson,Dan Mellström,Yoon Shin Cho,Hyejin Lee,Jian-Min Yuan,Woon-Puay Koh,Sang Youl Rhee,Jeong-Taek Woo,Iris M Heid,Klaus J Stark,Martina E Zimmermann,Henry Völzke,Georg Homuth,Michele K Evans,Alan B Zonderman,Ozren Polasek,Gerard Pasterkamp,Imo E Hoefer,Susan Redline,Katja Pahkala,Albertine J Oldehinkel,Harold Snieder,Ginevra Biino,Reinhold Schmidt,Helena Schmidt,Stefania Bandinelli,George Dedoussis,Thangavel Alphonse Thanaraj,Patricia A Peyser,Norihiro Kato,Matthias B Schulze,Giorgia Girotto,Carsten A Böger,Bettina Jung,Peter K Joshi,David A Bennett,Philip L De Jager,Xiangfeng Lu,Vasiliki Mamakou,Morris Brown,Mark J Caulfield,Patricia B Munroe,Xiuqing Guo,Marina Ciullo,Jost B Jonas,Nilesh J Samani,Jaakko Kaprio,Päivi Pajukanta,Teresa Tusié-Luna,Carlos A Aguilar-Salinas,Linda S Adair,Sonny Augustin Bechayda,H Janaka de Silva,Ananda R Wickremasinghe,Ronald M Krauss,Jer-Yuarn Wu,Wei Zheng,Anneke I den Hollander,Dwaipayan Bharadwaj,Adolfo Correa,James G Wilson,Lars Lind,Chew-Kiat Heng,Amanda E Nelson,Yvonne M Golightly,James F Wilson,Brenda Penninx,Hyung-Lae Kim,John Attia,Rodney J Scott,D C Rao,Donna K Arnett,Mark Walker,Laura J Scott,Heikki A Koistinen,Giriraj R Chandak,Josep M Mercader,Clicerio Gonzalez Villalpando,Lorena Orozco,Myriam Fornage,E Shyong Tai,Rob M van Dam,Terho Lehtimäki,Nish Chaturvedi,Mitsuhiro Yokota,Jianjun Liu,Dermot F Reilly,Amy Jayne McKnight,Frank Kee,Karl-Heinz Jöckel,Mark I McCarthy,Colin N A Palmer,Veronique Vitart,Caroline Hayward,Eleanor Simonsick,Cornelia M van Duijn,Zi-Bing Jin,Fan Lu,Haretsugu Hishigaki,Xu Lin,Winfried März,Vilmundur Gudnason,Jean-Claude Tardif,Guillaume Lettre,Leen M T Hart,Petra J M Elders,Daniel J Rader,Scott M Damrauer,Meena Kumari,Mika Kivimaki,Pim van der Harst,Tim D Spector,Ruth J F Loos,Michael A Province,Esteban J Parra,Miguel Cruz,Bruce M Psaty,Ivan Brandslund,Peter P Pramstaller,Charles N Rotimi,Kaare Christensen,Samuli Ripatti,Elisabeth Widén,Hakon Hakonarson,Struan F A Grant,Lambertus Kiemeney,Jacqueline de Graaf,Markus Loeffler,Florian Kronenberg,Dongfeng Gu,Jeanette Erdmann,Heribert Schunkert,Paul W Franks,Allan Linneberg,J Wouter Jukema,Amit V Khera,Minna Männikkö,Marjo-Riitta Jarvelin,Zoltan Kutalik,Cucca Francesco,Dennis O Mook-Kanamori,Ko Willems van Dijk,Hugh Watkins,David P Strachan,Niels Grarup,Peter Sever,Neil Poulter,Wayne Huey-Herng Sheu,Jerome I Rotter,Thomas M Dantoft,Fredrik Karpe,Matt J Neville,Nicholas J Timpson,Ching-Yu Cheng,Tien-Yin Wong,Chiea Chuen Khor,Hengtong Li,Charumathi Sabanayagam,Annette Peters,Christian Gieger,Andrew T Hattersley,Nancy L Pedersen,Patrik K E Magnusson,Dorret I Boomsma,Eco J C de Geus,L Adrienne Cupples,Joyce B J van Meurs,Arfan Ikram,Mohsen Ghanbari,Penny Gordon-Larsen,Wei Huang,Young Jin Kim,Yasuharu Tabara,Nicholas J Wareham,Claudia Langenberg,Eleftheria Zeggini,Jaakko Tuomilehto,Johanna Kuusisto,Markku Laakso,Erik Ingelsson,Goncalo Abecasis,John C Chambers,Jaspal S Kooner,Paul S de Vries,Alanna C Morrison,Scott Hazelhurst,Michèle Ramsay,Kari E North,Martha Daviglus,Peter Kraft,Nicholas G Martin,John B Whitfield,Shahid Abbas,Danish Saleheen,Robin G Walters,Michael V Holmes,Corri Black,Blair H Smith,Aris Baras,Anne E Justice,Julie E Buring,Paul M Ridker,Daniel I Chasman,Charles Kooperberg,Gen Tamiya,Masayuki Yamamoto,David A van Heel,Richard C Trembath,Wei-Qi Wei,Gail P Jarvik,Bahram Namjou,M Geoffrey Hayes,Marylyn D Ritchie,Pekka Jousilahti,Veikko Salomaa,Kristian Hveem,Bjørn Olav Åsvold,Michiaki Kubo,Yoichiro Kamatani,Yukinori Okada,Yoshinori Murakami,Bong-Jo Kim,Unnur Thorsteinsdottir,Kari Stefansson,Jifeng Zhang,Y Eugene Chen,Yuk-Lam Ho,Julie A Lynch,Philip S Tsao,Kyong-Mi Chang,Kelly Cho,Christopher J O'Donnell,John M Gaziano,Peter Wilson,Karen L Mohlke,Timothy M Frayling,Joel N Hirschhorn,Sekar Kathiresan,Michael Boehnke,Million Veterans Program; Global Lipids Genetics Consortium; Struan Grant,Pradeep Natarajan,Yan V Sun,Andrew P Morris,Panos Deloukas,Gina Peloso,Themistocles L Assimes,Cristen J Willer,Xiang Zhu,Christopher D Brown.

  Am J Hum Genet. 2022-08-04;109(8):1366-1387.

  • doi:10.1016/j.ajhg.2022.06.012
  • PMID:35931049
  • PMCID:PMC9388392

• Publication

  released

  Characterizing cis-regulatory elements using single-cell epigenomics

  Sebastian Preissl, Kyle J Gaulton, Bing Ren.

  Nat Rev Genet. 2022-07-15;

  • doi:10.1038/s41576-022-00509-1
  • PMID:35840754

• Publication

  released

  Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

  Hongbo Liu, Tomohito Doke, Dong Guo, et al.

  Nature Genetics. 2022-06-16;54:950–962.

  • PMID:35710981
  • doi:10.1038/s41588-022-01097-w

  Available supplemental data: website

  URL: https://github.com/hbliu/Kidney_Epi_Pri

  Data summary: Customized code used in the present study is available at github

  Available supplemental data: website

  URL: https://doi.org/10.5281/zenodo.6392494

  Data summary: Zenodo

• Publication

  released

  Cohesin-mediated loop anchors confine the locations of human replication origins

  Daniel J Emerson # 1 2 3 , Peiyao A Zhao # 4 , Ashley L Cook # 1 2 3 , et al.

  Nature. 2022-06-08;606(7915):812-819.

  • doi:10.1038/s41586-022-04803-0
  • PMID:35676475
  • PMCID:PMC9217744

  Data summary: All new raw data created in this manuscript have been uploaded to the 4D Nucleome portal and will…See more

• Publication

  released

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

  Steven Gazal, Omer Weissbrod, Farhad Hormozdiari, et al.

  Nature Genetics. 2022-06-06;(2022)

  • doi:10.1101/2021.08.02.21261488

  URL: https://doi.org/10.5281/zenodo.6354007

  Data summary: The list of 19,995 genes, summary statistics of the 63 independent traits, training and validation…See more

  Data summary: Links for all data sets used to create S2G strategies are provided in Supplementary Table 26.

  URL: http://www.ukbiobank.ac.uk/

  Data summary: Access to the UK Biobank resource is available via application

  URL: https://www.ebi.ac.uk/gwas/api/search/downloads/full

  Data summary: The GWAS Catalog is available

  URL: https://raw.githubusercontent.com/opentargets/genetics-gold-standards/master/gold_standards/processed/gwas_gold_standards.191108.tsv

  Data summary: Open Targets SNP–gene pairs are available

  URL: https://www.dropbox.com/s/kz2c49rpm2yanf5/all_byCS_rev1.txt?dl=0

  Data summary: SNP–gene pairs from ref48 are available

  URL: https://alkesgroup.broadinstitute.org/cS2G/code

  Data summary: The code to estimate precision and recall of S2G strategies and the code to create combined S2G…See more

  URL: https://doi.org/10.5281/zenodo.6415925

  Data summary: The code to estimate precision and recall of S2G strategies and the code to create combined S2G…See more

• Publication

  released

  Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

  Adam W Turner, Shengen Shawn Hu, Jose Verdezoto Mosquera, et al.

  Nat Genet.. 2022-06-01;54(6):804-816.

  • doi:10.1038/s41588-022-01069-0
  • PMID:35590109
  • PMCID:PMC9203933

  File format: TSV

  URL: https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01069-0/MediaObjects/41588_2022_1069_MOESM10_ESM.xlsx

  Data summary: Supplementary Data 6 Chromatin accessibility QTLs within individual coronary artery cell types,…See more

  File format: TSV

  URL: https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01069-0/MediaObjects/41588_2022_1069_MOESM11_ESM.xlsx

  Data summary: Supplementary Data 7 Chromatin accessibility QTLs from bulk coronary artery ATAC-seq data,…See more

• Publication

  released

  The Tabula Sapiens: A multiple-organ, single-cell transcriptomic atlas of humans

  Tabula Sapiens Consortium*; Robert C Jones, Jim Karkanias, Mark A Krasnow, et al.

  Science. 2022-05-13;376(6594):eabl4896.

  • doi:10.1126/science.abl4896
  • PMID:35549404

  Available supplemental data: website

  URL: http://tabula-sapiens-portal.ds.czbiohub.org/

  Data summary: The entire dataset can be explored interactively at http://tabula-sapiens-portal.ds.czbiohub.org/.

  Available supplemental data: website

  URL: https://doi.org/10.5281/zenodo.6069683

  Data summary: The code used for the analysis is available from Zenodo (https://doi.org/10.5281/zenodo.6069683).

  Available supplemental data: website

  URL: https://doi.org/10.6084/m9.figshare.14267219

  Data summary: Gene counts and metadata are available from figshare…See more

  Available supplemental data: website

  URL: https://registry.opendata.aws/tabula-sapiens/

  Data summary: The raw data files are available from a public AWS S3 bucket…See more

  Available supplemental data: website

  URL: https://doi.org/10.6084/m9.figshare.14962947

  Data summary: The histology images are available from figshare (https://doi.org/10.6084/m9.figshare.14962947).

  Available supplemental data: website

  URL: https://doi.org/10.6084/m9.figshare.14977281

  Data summary: SpliZ scores are available from figshare (https://doi.org/10.6084/m9.figshare.14977281).

• Publication

  released

  Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells

  Kousuke Mouri, Michael H. Guo, Carl G. de Boer, et al.

  Nat Genet. 2022-05-01;54(5):603-612.

  • doi:10.1038/s41588-022-01056-5
  • PMID:35513721

• Publication

  released

  A chromatin accessibility landscape during early adipogenesis of human adipose-derived stem cells

  Sen Li, Xiaolin Zong, Liheng Zhang, et al.

  Adipocyte. 2022-04-17;11(1):239-249.

  • doi:10.1080/21623945.2022.2063015
  • PMID:35435105
  • PMCID:PMC9037556