Works matching AU Handsaker, Robert E.

Results: 22

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

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

Antisense oligonucleotide–mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC–derived striatal neurons.

Published in:

Science Translational Medicine, 2025, v. 17, n. 785, p. 1, doi. 10.1126/scitranslmed.adn4600

By:

Bunting, Emma L.;
Donaldson, Jasmine;
Cumming, Sarah A.;
Olive, Jessica;
Broom, Elizabeth;
Miclăuș, Mihai;
Hamilton, Joseph;
Tegtmeyer, Matthew;
Zhao, Hien T.;
Brenton, Jonathan;
Lee, Won-Seok;
Handsaker, Robert E.;
Li, Susan;
Ford, Brittany;
Ryten, Mina;
McCarroll, Steven A.;
Kordasiewicz, Holly B.;
Monckton, Darren G.;
Balmus, Gabriel;
Flower, Michael

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

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

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

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

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

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 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

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

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

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

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

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