Works matching AU Collins, Ryan L.

Results: 19

Indexcov: fast coverage quality control for whole-genome sequencing.

Published in:

GigaScience, 2017, v. 6, n. 11, p. 1, doi. 10.1093/gigascience/gix090

By:

Pedersen, Brent S.;
Collins, Ryan L.;
Talkowski, Michael E.;
Quinlan, Aaron R.

Publication type:

Article

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

Published in:

Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290

By:

Macnee, Marie;
Pérez-Palma, Eduardo;
Brünger, Tobias;
Klöckner, Chiara;
Platzer, Konrad;
Stefanski, Arthur;
Montanucci, Ludovica;
Bayat, Allan;
Radtke, Maximilian;
Collins, Ryan L;
Talkowski, Michael;
Blankenberg, Daniel;
Møller, Rikke S;
Lemke, Johannes R;
Nothnagel, Michael;
May, Patrick;
Lal, Dennis

Publication type:

Article

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Published in:

Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1158-6

By:

Collins, Ryan L.;
Brand, Harrison;
Redin, Claire E.;
Hanscom, Carrie;
Antolik, Caroline;
Stone, Matthew R.;
Glessner, Joseph T.;
Mason, Tamara;
Pregno, Giulia;
Dorrani, Naghmeh;
Mandrile, Giorgia;
Giachino, Daniela;
Perrin, Danielle;
Walsh, Cole;
Cipicchio, Michelle;
Costello, Maura;
Stortchevoi, Alexei;
Joon-Yong An;
Currall, Benjamin B.;
Seabra, Catarina M.

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

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 135, doi. 10.1093/hmg/ddaa283

By:

Jung, Roy;
Lee, Yejin;
Barker, Douglas;
Correia, Kevin;
Shin, Baehyun;
Loupe, Jacob;
Collins, Ryan L;
Lucente, Diane;
Ruliera, Jayla;
Gillis, Tammy;
Mysore, Jayalakshmi S;
Rodan, Lance;
Picker, Jonathan;
Lee, Jong-Min;
Howland, David;
Lee, Ramee;
Kwak, Seung;
MacDonald, Marcy E;
Gusella, James F;
Seong, Ihn Sik

Publication type:

Article

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Published in:

Nature Communications, 2023, n. 1, p. 1, doi. 10.1038/s41467-023-39539-6

By:

Montanucci, Ludovica;
Lewis-Smith, David;
Collins, Ryan L.;
Niestroj, Lisa-Marie;
Parthasarathy, Shridhar;
Xian, Julie;
Ganesan, Shiva;
Macnee, Marie;
Brünger, Tobias;
Thomas, Rhys H.;
Talkowski, Michael;
Motelow, Joshua E.;
Povysil, Gundula;
Dhindsa, Ryan S.;
Stanley, Kate E.;
Allen, Andrew S.;
Goldstein, David B.;
Feng, Yen-Chen Anne;
Howrigan, Daniel P.;
Abbott, Liam E.

Publication type:

Article

Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis.

Published in:

BioData Mining, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0381-6-4

By:

Collins, Ryan L.;
Ting Hu;
Wejse, Christian;
Sirugo, Giorgio;
Williams, Scott M.;
Moore, Jason H.

Publication type:

Article

Cover Image, Volume 173A, Number 2, February 2017.

Published in:

2017

By:

Maussion, Gilles;
Cruceanu, Cristiana;
Rosenfeld, Jill A.;
Bell, Scott C.;
Jollant, Fabrice;
Szatkiewicz, Jin;
Collins, Ryan L.;
Hanscom, Carrie;
Kolobova, Ilaria;
de Champfleur, Nicolas Menjot;
Blumenthal, Ian;
Chiang, Colby;
Ota, Vanessa;
Hultman, Christina;
O'Dushlaine, Colm;
McCarroll, Steve;
Alda, Martin;
Jacquemont, Sebastien;
Ordulu, Zehra;
Marshall, Christian R.

Publication type:

Other

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021

By:

Maussion, Gilles;
Cruceanu, Cristiana;
Rosenfeld, Jill A.;
Bell, Scott C.;
Jollant, Fabrice;
Szatkiewicz, Jin;
Collins, Ryan L.;
Hanscom, Carrie;
Kolobova, Ilaria;
de Champfleur, Nicolas Menjot;
Blumenthal, Ian;
Chiang, Colby;
Ota, Vanessa;
Hultman, Christina;
O'Dushlaine, Colm;
McCarroll, Steve;
Alda, Martin;
Jacquemont, Sebastien;
Ordulu, Zehra;
Marshall, Christian R.

Publication type:

Article

An information-gain approach to detecting three-way epistatic interactions in genetic association studies.

Published in:

Journal of the American Medical Informatics Association, 2013, v. 20, n. 4, p. 630, doi. 10.1136/amiajnl-2012-001525

By:

Ting Hu;
Yuanzhu Chen;
Kiralis, Jeff W.;
Collins, Ryan L.;
Wejse, Christian;
Sirugo, Giorgio;
Williams, Scott M.;
Moore, Jason H.

Publication type:

Article

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

Published in:

2021

By:

Wang, Qingbo;
Pierce-Hoffman, Emma;
Cummings, Beryl B.;
Alföldi, Jessica;
Francioli, Laurent C.;
Gauthier, Laura D.;
Hill, Andrew J.;
O'Donnell-Luria, Anne H.;
Genome Aggregation Database Production Team;
Armean, Irina M.;
Banks, Eric;
Bergelson, Louis;
Cibulskis, Kristian;
Collins, Ryan L.;
Connolly, Kristen M.;
Covarrubias, Miguel;
Daly, Mark J.;
Donnelly, Stacey;
Farjoun, Yossi;
Ferriera, Steven

Publication type:

Correction Notice

Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Published in:

2021

By:

Whiffin, Nicola;
Karczewski, Konrad J.;
Zhang, Xiaolei;
Chothani, Sonia;
Smith, Miriam J.;
Evans, D. Gareth;
Roberts, Angharad M.;
Quaife, Nicholas M.;
Schafer, Sebastian;
Rackham, Owen;
Alföldi, Jessica;
O'Donnell-Luria, Anne H.;
Francioli, Laurent C.;
Genome Aggregation Database Production Team;
Armean, Irina M.;
Banks, Eric;
Bergelson, Louis;
Cibulskis, Kristian;
Collins, Ryan L.;
Connolly, Kristen M.

Publication type:

Correction Notice

Functional annotation of rare structural variation in the human brain.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16736-1

By:

Han, Lide;
Zhao, Xuefang;
Benton, Mary Lauren;
Perumal, Thaneer;
Collins, Ryan L.;
Hoffman, Gabriel E.;
Johnson, Jessica S.;
Sloofman, Laura;
Wang, Harold Z.;
Stone, Matthew R.;
CommonMind Consortium;
Akbarian, Schahram;
Bendl, Jaroslav;
Breen, Michael;
Brennand, Kristen J.;
Brown, Leanne;
Browne, Andrew;
Buxbaum, Joseph D.;
Charney, Alexander;
Chess, Andrew

Publication type:

Article

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-12438-5

By:

Wang, Qingbo;
Pierce-Hoffman, Emma;
Cummings, Beryl B.;
Alföldi, Jessica;
Francioli, Laurent C.;
Gauthier, Laura D.;
Hill, Andrew J.;
O'Donnell-Luria, Anne H.;
Genome Aggregation Database Production Team;
Armean, Irina M.;
Banks, Eric;
Bergelson, Louis;
Cibulskis, Kristian;
Collins, Ryan L.;
Connolly, Kristen M.;
Covarrubias, Miguel;
Daly, Mark J.;
Donnelly, Stacey;
Farjoun, Yossi;
Ferriera, Steven

Publication type:

Article

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-10717-9

By:

Whiffin, Nicola;
Karczewski, Konrad J.;
Zhang, Xiaolei;
Chothani, Sonia;
Smith, Miriam J.;
Evans, D. Gareth;
Roberts, Angharad M.;
Quaife, Nicholas M.;
Schafer, Sebastian;
Rackham, Owen;
Alföldi, Jessica;
O'Donnell-Luria, Anne H.;
Francioli, Laurent C.;
Genome Aggregation Database Production Team;
Armean, Irina M.;
Banks, Eric;
Bergelson, Louis;
Cibulskis, Kristian;
Collins, Ryan L.;
Connolly, Kristen M.

Publication type:

Article

Primary cilia defects causing mitral valve prolapse.

Published in:

Science Translational Medicine, 2019, v. 11, n. 493, p. N.PAG, doi. 10.1126/scitranslmed.aax0290

By:

Toomer, Katelynn A.;
Yu, Mengyao;
Fulmer, Diana;
Guo, Lilong;
Moore, Kelsey S.;
Moore, Reece;
Drayton, Ka'la D.;
Glover, Janiece;
Peterson, Neal;
Ramos-Ortiz, Sandra;
Drohan, Alex;
Catching, Breiona J.;
Stairley, Rebecca;
Wessels, Andy;
Lipschutz, Joshua H.;
Delling, Francesca N.;
Jeunemaitre, Xavier;
Dina, Christian;
Collins, Ryan L.;
Brand, Harrison

Publication type:

Article

Loss of δ-catenin function in severe autism.

Published in:

Nature, 2015, v. 520, n. 7545, p. 51, doi. 10.1038/nature14186

By:

Turner, Tychele N.;
Sharma, Kamal;
Oh, Edwin C.;
Liu, Yangfan P.;
Collins, Ryan L.;
Sosa, Maria X.;
Auer, Dallas R.;
Brand, Harrison;
Sanders, Stephan J.;
Moreno-De-Luca, Daniel;
Pihur, Vasyl;
Plona, Teri;
Pike, Kristen;
Soppet, Daniel R.;
Smith, Michael W.;
Cheung, Sau Wai;
Martin, Christa Lese;
State, Matthew W.;
Talkowski, Michael E.;
Cook, Edwin

Publication type:

Article

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1154

By:

Lilleväli, Hardo;
Pajusalu, Sander;
Wojcik, Monica H.;
Goodrich, Julia;
Collins, Ryan L.;
Murumets, Ülle;
Tammur, Pille;
Blau, Nenad;
Lilleväli, Kersti;
Õunap, Katrin

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