Found: 21

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  • Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14049-5
    By:
    • Genovese, Giulio;
    • Mello, Curtis J.;
    • Loh, Po-Ru;
    • Handsaker, Robert E.;
    • Kashin, Seva;
    • Whelan, Christopher W.;
    • Bayer-Zwirello, Lucy A.;
    • McCarroll, Steven A.
    Publication type:
    Article

  • The genetic architecture of DNA replication timing in human pluripotent stem cells.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27115-9
    By:
    • Ding, Qiliang;
    • Edwards, Matthew M.;
    • Wang, Ning;
    • Zhu, Xiang;
    • Bracci, Alexa N.;
    • Hulke, Michelle L.;
    • Hu, Ya;
    • Tong, Yao;
    • Hsiao, Joyce;
    • Charvet, Christine J.;
    • Ghosh, Sulagna;
    • Handsaker, Robert E.;
    • Eggan, Kevin;
    • Merkle, Florian T.;
    • Gerhardt, Jeannine;
    • Egli, Dieter;
    • Clark, Andrew G.;
    • Koren, Amnon
    Publication type:
    Article

  • A vast resource of allelic expression data spanning human tissues.

    Published in:
    Genome Biology, 2020, v. 21, p. 1, doi. 10.1186/s13059-020-02122-z
    By:
    • Castel, Stephane E.;
    • Aguet, François;
    • Mohammadi, Pejman;
    • GTEx Consortium;
    • Anand, Shankara;
    • Ardlie, Kristin G.;
    • Gabriel, Stacey;
    • Getz, Gad A.;
    • Graubert, Aaron;
    • Hadley, Kane;
    • Handsaker, Robert E.;
    • Huang, Katherine H.;
    • Kashin, Seva;
    • Li, Xiao;
    • MacArthur, Daniel G.;
    • Meier, Samuel R.;
    • Nedzel, Jared L.;
    • Nguyen, Duyen T.;
    • Segrè, Ayellet V.;
    • Todres, Ellen
    Publication type:
    Article

  • Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

    Published in:
    2020
    By:
    • Zekavat, Seyedeh M.;
    • Ruotsalainen, Sanni;
    • Handsaker, Robert E.;
    • Alver, Maris;
    • Bloom, Jonathan;
    • Poterba, Timothy;
    • Seed, Cotton;
    • Ernst, Jason;
    • Chaffin, Mark;
    • Engreitz, Jesse;
    • Peloso, Gina M.;
    • Manichaikul, Ani;
    • Yang, Chaojie;
    • Ryan, Kathleen A.;
    • Fu, Mao;
    • Johnson, W. Craig;
    • Tsai, Michael;
    • Budoff, Matthew;
    • Vasan, Ramachandran S.;
    • Cupples, L. Adrienne
    Publication type:
    Correction Notice

  • The effects of common structural variants on 3D chromatin structure.

    Published in:
    BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-6516-1
    By:
    • Shanta, Omar;
    • Noor, Amina;
    • Human Genome Structural Variation Consortium (HGSVC);
    • Chaisson, Mark J. P.;
    • Sanders, Ashley D.;
    • Zhao, Xuefang;
    • Malhotra, Ankit;
    • Porubsky, David;
    • Rausch, Tobias;
    • Gardner, Eugene J.;
    • Rodriguez, Oscar L.;
    • Guo, Li;
    • Collins, Ryan L.;
    • Fan, Xian;
    • Wen, Jia;
    • Handsaker, Robert E.;
    • Fairley, Susan;
    • Kronenberg, Zev N.;
    • Kong, Xiangmeng;
    • Hormozdiari, Fereydoun
    Publication type:
    Article

  • Multi-platform discovery of haplotype-resolved structural variation in human genomes.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-018-08148-z
    By:
    • Chaisson, Mark J. P.;
    • Sanders, Ashley D.;
    • Zhao, Xuefang;
    • Malhotra, Ankit;
    • Porubsky, David;
    • Rausch, Tobias;
    • Gardner, Eugene J.;
    • Rodriguez, Oscar L.;
    • Guo, Li;
    • Collins, Ryan L.;
    • Fan, Xian;
    • Wen, Jia;
    • Handsaker, Robert E.;
    • Fairley, Susan;
    • Kronenberg, Zev N.;
    • Kong, Xiangmeng;
    • Hormozdiari, Fereydoun;
    • Lee, Dillon;
    • Wenger, Aaron M.;
    • Hastie, Alex R.
    Publication type:
    Article

  • Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05975-y
    By:
    • Zekavat, Seyedeh M.;
    • Ruotsalainen, Sanni;
    • Handsaker, Robert E.;
    • Alver, Maris;
    • Bloom, Jonathan;
    • Poterba, Timothy;
    • Seed, Cotton;
    • Ernst, Jason;
    • Chaffin, Mark;
    • Engreitz, Jesse;
    • Peloso, Gina M.;
    • Manichaikul, Ani;
    • Yang, Chaojie;
    • Ryan, Kathleen A.;
    • Fu, Mao;
    • Johnson, W. Craig;
    • Tsai, Michael;
    • Budoff, Matthew;
    • Vasan, Ramachandran S.;
    • Cupples, L. Adrienne
    Publication type:
    Article

  • Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04668-w
    By:
    • Zekavat, Seyedeh M.;
    • Ruotsalainen, Sanni;
    • Handsaker, Robert E.;
    • Alver, Maris;
    • Bloom, Jonathan;
    • Poterba, Timothy;
    • Seed, Cotton;
    • Ernst, Jason;
    • Chaffin, Mark;
    • Engreitz, Jesse;
    • Peloso, Gina M.;
    • Manichaikul, Ani;
    • Yang, Chaojie;
    • Ryan, Kathleen A.;
    • Fu, Mao;
    • Johnson, W. Craig;
    • Tsai, Michael;
    • Budoff, Matthew;
    • Ramachandran, Vasan S.;
    • Cupples, L. Adrienne
    Publication type:
    Article

  • A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04332-3
    By:
    • Estrada, Karol;
    • Whelan, Christopher W.;
    • Fengmei Zhao;
    • Bronson, Paola;
    • Handsaker, Robert E.;
    • Chao Sun;
    • Carulli, John P.;
    • Harris, Tim;
    • Ransohoff, Richard M.;
    • McCarroll, Steven A.;
    • Day-Williams, Aaron G.;
    • Greenberg, Benjamin M.;
    • MacArthur, Daniel G.
    Publication type:
    Article

  • Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007293
    By:
    • Raffield, Laura M.;
    • Ulirsch, Jacob C.;
    • Naik, Rakhi P.;
    • Lessard, Samuel;
    • Handsaker, Robert E.;
    • Jain, Deepti;
    • Kang, Hyun M.;
    • Pankratz, Nathan;
    • Auer, Paul L.;
    • Bao, Erik L.;
    • Smith, Joshua D.;
    • Lange, Leslie A.;
    • Lange, Ethan M.;
    • Li, Yun;
    • Thornton, Timothy A.;
    • Young, Bessie A.;
    • Abecasis, Goncalo R.;
    • Laurie, Cathy C.;
    • Nickerson, Deborah A.;
    • McCarroll, Steven A.
    Publication type:
    Article

  • An integrated map of structural variation in 2,504 human genomes.

    Published in:
    Nature, 2015, v. 526, n. 7571, p. 75, doi. 10.1038/nature15394
    By:
    • Sudmant, Peter H.;
    • Rausch, Tobias;
    • Gardner, Eugene J.;
    • Handsaker, Robert E.;
    • Abyzov, Alexej;
    • Huddleston, John;
    • Zhang, Yan;
    • Ye, Kai;
    • Jun, Goo;
    • Hsi-Yang Fritz, Markus;
    • Konkel, Miriam K.;
    • Malhotra, Ankit;
    • Stütz, Adrian M.;
    • Shi, Xinghua;
    • Paolo Casale, Francesco;
    • Chen, Jieming;
    • Hormozdiari, Fereydoun;
    • Dayama, Gargi;
    • Chen, Ken;
    • Malig, Maika
    Publication type:
    Article

  • Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

    Published in:
    Nature Genetics, 2015, v. 47, n. 8, p. 921, doi. 10.1038/ng.3340
    By:
    • Usher, Christina L;
    • Pato, Carlos N;
    • Pato, Michele T;
    • McCarthy, Mark I;
    • Altshuler, David M;
    • Handsaker, Robert E;
    • McCarroll, Steven A;
    • Esko, Tõnu;
    • Tuke, Marcus A;
    • Weedon, Michael N;
    • Frayling, Timothy M;
    • Hastie, Alex R;
    • Cao, Han;
    • Moon, Jennifer E;
    • Hirschhorn, Joel N;
    • Kashin, Seva;
    • Fuchsberger, Christian;
    • Boehnke, Michael;
    • Metspalu, Andres
    Publication type:
    Article

  • Large multiallelic copy number variations in humans.

    Published in:
    Nature Genetics, 2015, v. 47, n. 3, p. 296, doi. 10.1038/ng.3200
    By:
    • Handsaker, Robert E;
    • Van Doren, Vanessa;
    • Genovese, Giulio;
    • Kashin, Seva;
    • McCarroll, Steven A;
    • Berman, Jennifer R;
    • Boettger, Linda M
    Publication type:
    Article

  • Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

    Published in:
    Nature Genetics, 2013, v. 45, n. 6, p. 621, doi. 10.1038/ng.2610
    By:
    • den Hoed, Marcel;
    • Eijgelsheim, Mark;
    • Esko, Tõnu;
    • Brundel, Bianca J J M;
    • Peal, David S;
    • Evans, David M;
    • Nolte, Ilja M;
    • Segrè, Ayellet V;
    • Holm, Hilma;
    • Handsaker, Robert E;
    • Westra, Harm-Jan;
    • Johnson, Toby;
    • Isaacs, Aaron;
    • Yang, Jian;
    • Lundby, Alicia;
    • Zhao, Jing Hua;
    • Kim, Young Jin;
    • Go, Min Jin;
    • Almgren, Peter;
    • Bochud, Murielle
    Publication type:
    Article

  • Using population admixture to help complete maps of the human genome.

    Published in:
    Nature Genetics, 2013, v. 45, n. 4, p. 406, doi. 10.1038/ng.2565
    By:
    • Genovese, Giulio;
    • Pollak, Martin R;
    • Wilson, James G;
    • Handsaker, Robert E;
    • McCarroll, Steven A;
    • Li, Heng;
    • Altemose, Nicolas;
    • Reich, David;
    • Lindgren, Amelia M;
    • Chambert, Kimberly;
    • Pasaniuc, Bogdan;
    • Price, Alkes L;
    • Morton, Cynthia C
    Publication type:
    Article

  • Structural haplotypes and recent evolution of the human 17q21.31 region.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 881, doi. 10.1038/ng.2334
    By:
    • Boettger, Linda M;
    • Handsaker, Robert E;
    • Zody, Michael C;
    • McCarroll, Steven A
    Publication type:
    Article

  • The variant call format and VCFtools.

    Published in:
    Bioinformatics, 2011, v. 27, n. 15, p. 2156
    By:
    • Danecek, Petr;
    • Auton, Adam;
    • Abecasis, Goncalo;
    • Albers, Cornelis A.;
    • Banks, Eric;
    • DePristo, Mark A.;
    • Handsaker, Robert E.;
    • Lunter, Gerton;
    • Marth, Gabor T.;
    • Sherry, Stephen T.;
    • McVean, Gilean;
    • Durbin, Richard
    Publication type:
    Article

  • Discovery and genotyping of genome structural polymorphism by sequencing on a population scale.

    Published in:
    Nature Genetics, 2011, v. 43, n. 3, p. 269, doi. 10.1038/ng.768
    By:
    • Handsaker, Robert E.;
    • Korn, Joshua M,;
    • Nemesh, James;
    • McCarroll, Steven A.
    Publication type:
    Article

  • Mapping copy number variation by population-scale genome sequencing.

    Published in:
    Nature, 2011, v. 470, n. 7332, p. 59, doi. 10.1038/nature09708
    By:
    • Mills, Ryan E.;
    • Walter, Klaudia;
    • Stewart, Chip;
    • Handsaker, Robert E.;
    • Chen, Ken;
    • Alkan, Can;
    • Abyzov, Alexej;
    • Yoon, Seungtai Chris;
    • Kai Ye;
    • Cheetham, R. Keira;
    • Chinwalla, Asif;
    • Conrad, Donald F.;
    • Yutao Fu;
    • Grubert, Fabian;
    • Hajirasouliha, Iman;
    • Hormozdiari, Fereydoun;
    • Iakoucheva, Lilia M.;
    • Iqbal, Zamin;
    • Shuli Kang;
    • Kidd, Jeffrey M.
    Publication type:
    Article

  • Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans.

    Published in:
    Nature, 2009, v. 461, n. 7262, p. 393, doi. 10.1038/nature08358
    By:
    • Haas, Brian J.;
    • Kamoun, Sophien;
    • Zody, Michael C.;
    • Jiang, Rays H. Y.;
    • Handsaker, Robert E.;
    • Cano, Liliana M.;
    • Grabherr, Manfred;
    • Kodira, Chinnappa D.;
    • Raffaele, Sylvain;
    • Torto-Alalibo, Trudy;
    • Bozkurt, Tolga O.;
    • Ah-Fong, Audrey M. V.;
    • Alvarado, Lucia;
    • Anderson, Vicky L.;
    • Armstrong, Miles R.;
    • Avrova, Anna;
    • Baxter, Laura;
    • Beynon, Jim;
    • Boevink, Petra C.;
    • Bollmann, Stephanie R.
    Publication type:
    Article

  • SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap.

    Published in:
    Bioinformatics, 2008, v. 24, n. 24, p. 2938, doi. 10.1093/bioinformatics/btn564
    By:
    • Andrew D. Johnson;
    • Robert E. Handsaker;
    • Sara L. Pulit;
    • Marcia M. Nizzari;
    • Christopher J. ODonnell;
    • Paul I. W. de Bakker
    Publication type:
    Article