Richard K Wilson

Richard K Wilson

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Richard K Wilson

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Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Eur J Med Genet 2019 Aug 10;62(8):103701. Epub 2019 Jun 10.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2019.103701DOI Listing
August 2019

subsp. produces mono-lateral serine rich repeat protein fibrils one of which contributes to saliva binding via sialic acid.

Infect Immun 2019 Jul 15. Epub 2019 Jul 15.

Center for Microbial Pathogenesis, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1128/IAI.00406-19DOI Listing
July 2019

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.

iScience 2019 May 29;18:1-10. Epub 2019 May 29.

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA; Department of Biology, Johns Hopkins University, Baltimore, MD, USA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.05.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609817PMC
May 2019

Long-read sequence and assembly of segmental duplications.

Nat Methods 2019 01 17;16(1):88-94. Epub 2018 Dec 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41592-018-0236-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382464PMC
January 2019

Characterizing the Major Structural Variant Alleles of the Human Genome.

Cell 2019 Jan 17;176(3):663-675.e19. Epub 2019 Jan 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183163
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http://dx.doi.org/10.1016/j.cell.2018.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438697PMC
January 2019

Immune Escape of Relapsed AML Cells after Allogeneic Transplantation.

N Engl J Med 2018 12 31;379(24):2330-2341. Epub 2018 Oct 31.

From the Division of Oncology, Department of Internal Medicine (M.J.C., A.A.P., M.P.R., C.A.M., E.C., N.M.H., L.D.W., J.S.W., S.E.H., D.C.L., M.J.W., P.W., T.J.L., J.F.D.), the McDonnell Genome Institute (A.A.P., C.A.M., M.O., C.C.F., R.S.F., L.D.W., T.J.L.), the Department of Pathology and Immunology (E.J.D., J.E.P.), and the Division of Biostatistics (J.D.B.), Washington University in St. Louis, St. Louis; the Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN (J.M.K.); the Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH (R.K.W.); and the Center for Cancer Research, Massachusetts General Hospital, Boston (T.A.G.).

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http://www.nejm.org/doi/10.1056/NEJMoa1808777
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http://dx.doi.org/10.1056/NEJMoa1808777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322675PMC
December 2018

Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses.

Cancer Cell 2018 09 23;34(3):411-426.e19. Epub 2018 Aug 23.

Department of Developmental Neurobiology, St. Jude Children's Research Hospital, 262 Danny Thomas Place, MS 323, Memphis, TN 38105-3678, USA; Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38105, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2018.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158019PMC
September 2018

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

Improving eukaryotic genome annotation using single molecule mRNA sequencing.

BMC Genomics 2018 03 1;19(1):172. Epub 2018 Mar 1.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63108, USA.

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http://dx.doi.org/10.1186/s12864-018-4555-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833154PMC
March 2018

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the gene.

Mol Vis 2016 17;22:1239-1247. Epub 2016 Oct 17.

Human Genetics Center, School of Public Health, The University of Texas Health Science Center (UTHealth), Houston, TX; Ruiz Dept. of Ophthalmology, University of Texas Health Science Center Houston (UTHealth), Houston, TX.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070570PMC
January 2018

Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes.

Exp Hematol 2017 11 28;55:19-33. Epub 2017 Jul 28.

The McDonnell Genome Institute, Washington University, St. Louis, MO; Department of Medicine, Washington University, St. Louis, MO; Siteman Cancer Center, Washington University, St. Louis, MO; Department of Biomedical Engineering, Washington University, St. Louis, MO. Electronic address:

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http://dx.doi.org/10.1016/j.exphem.2017.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772960PMC
November 2017

Corrigendum: Whole genome analysis of a schistosomiasis-transmitting freshwater snail.

Authors:
Coen M Adema LaDeana W Hillier Catherine S Jones Eric S Loker Matty Knight Patrick Minx Guilherme Oliveira Nithya Raghavan Andrew Shedlock Laurence Rodrigues do Amaral Halime D Arican-Goktas Juliana G Assis Elio Hideo Baba Olga L Baron Christopher J Bayne Utibe Bickham-Wright Kyle K Biggar Michael Blouin Bryony C Bonning Chris Botka Joanna M Bridger Katherine M Buckley Sarah K Buddenborg Roberta Lima Caldeira Julia Carleton Omar S Carvalho Maria G Castillo Iain W Chalmers Mikkel Christensens Sandra Clifton Celine Cosseau Christine Coustau Richard M Cripps Yesid Cuesta-Astroz Scott F Cummins Leon Di Stefano Nathalie Dinguirard David Duval Scott Emrich Cédric Feschotte Rene Feyereisen Peter FitzGerald Catrina Fronick Lucinda Fulton Richard Galinier Sandra G Gava Michael Geusz Kathrin K Geyer Gloria I Giraldo-Calderón Matheus de Souza Gomes Michelle A Gordy Benjamin Gourbal Christoph Grunau Patrick C Hanington Karl F Hoffmann Daniel Hughes Judith Humphries Daniel J Jackson Liana K Jannotti-Passos Wander de Jesus Jeremias Susan Jobling Bishoy Kamel Aurélie Kapusta Satwant Kaur Joris M Koene Andrea B Kohn Dan Lawson Scott P Lawton Di Liang Yanin Limpanont Sijun Liu Anne E Lockyer Ty Anna L Lovato Fernanda Ludolf Vince Magrini Donald P McManus Monica Medina Milind Misra Guillaume Mitta Gerald M Mkoji Michael J Montague Cesar Montelongo Leonid L Moroz Monica C Munoz-Torres Umar Niazi Leslie R Noble Francislon S Oliveira Fabiano S Pais Anthony T Papenfuss Rob Peace Janeth J Pena Emmanuel A Pila Titouan Quelais Brian J Raney Jonathan P Rast David Rollinson Izinara C Rosse Bronwyn Rotgans Edwin J Routledge Kathryn M Ryan Larissa L S Scholte Kenneth B Storey Martin Swain Jacob A Tennessen Chad Tomlinson Damian L Trujillo Emanuela V Volpi Anthony J Walker Tianfang Wang Ittiprasert Wannaporn Wesley C Warren Xiao-Jun Wu Timothy P Yoshino Mohammed Yusuf Si-Ming Zhang Min Zhao Richard K Wilson

Nat Commun 2017 08 23;8:16153. Epub 2017 Aug 23.

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http://dx.doi.org/10.1038/ncomms16153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569240PMC
August 2017

The Dynamic Epigenetic Landscape of the Retina During Development, Reprogramming, and Tumorigenesis.

Neuron 2017 May;94(3):550-568.e10

Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA; Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.04.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508517PMC
May 2017

Whole genome analysis of a schistosomiasis-transmitting freshwater snail.

Authors:
Coen M Adema LaDeana W Hillier Catherine S Jones Eric S Loker Matty Knight Patrick Minx Guilherme Oliveira Nithya Raghavan Andrew Shedlock Laurence Rodrigues do Amaral Halime D Arican-Goktas Juliana G Assis Elio Hideo Baba Olga L Baron Christopher J Bayne Utibe Bickham-Wright Kyle K Biggar Michael Blouin Bryony C Bonning Chris Botka Joanna M Bridger Katherine M Buckley Sarah K Buddenborg Roberta Lima Caldeira Julia Carleton Omar S Carvalho Maria G Castillo Iain W Chalmers Mikkel Christensens Sandra Clifton Celine Cosseau Christine Coustau Richard M Cripps Yesid Cuesta-Astroz Scott F Cummins Leon di Stephano Nathalie Dinguirard David Duval Scott Emrich Cédric Feschotte Rene Feyereisen Peter FitzGerald Catrina Fronick Lucinda Fulton Richard Galinier Sandra G Gava Michael Geusz Kathrin K Geyer Gloria I Giraldo-Calderón Matheus de Souza Gomes Michelle A Gordy Benjamin Gourbal Christoph Grunau Patrick C Hanington Karl F Hoffmann Daniel Hughes Judith Humphries Daniel J Jackson Liana K Jannotti-Passos Wander de Jesus Jeremias Susan Jobling Bishoy Kamel Aurélie Kapusta Satwant Kaur Joris M Koene Andrea B Kohn Dan Lawson Scott P Lawton Di Liang Yanin Limpanont Sijun Liu Anne E Lockyer TyAnna L Lovato Fernanda Ludolf Vince Magrini Donald P McManus Monica Medina Milind Misra Guillaume Mitta Gerald M Mkoji Michael J Montague Cesar Montelongo Leonid L Moroz Monica C Munoz-Torres Umar Niazi Leslie R Noble Francislon S Oliveira Fabiano S Pais Anthony T Papenfuss Rob Peace Janeth J Pena Emmanuel A Pila Titouan Quelais Brian J Raney Jonathan P Rast David Rollinson Izinara C Rosse Bronwyn Rotgans Edwin J Routledge Kathryn M Ryan Larissa L S Scholte Kenneth B Storey Martin Swain Jacob A Tennessen Chad Tomlinson Damian L Trujillo Emanuela V Volpi Anthony J Walker Tianfang Wang Ittiprasert Wannaporn Wesley C Warren Xiao-Jun Wu Timothy P Yoshino Mohammed Yusuf Si-Ming Zhang Min Zhao Richard K Wilson

Nat Commun 2017 05 16;8:15451. Epub 2017 May 16.

The McDonnell Genome Institute, Washington University, Saint Louis, Missouri 63108 USA.

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http://dx.doi.org/10.1038/ncomms15451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440852PMC
May 2017

CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression.

Cell 2017 02 16;168(5):801-816.e13. Epub 2017 Feb 16.

Section of Stem Cell Biology, Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; The McDonnell Genome Institute, Washington University, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328582PMC
February 2017

Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African Americans.

Cancer Epidemiol Biomarkers Prev 2016 11 2;25(11):1456-1463. Epub 2016 Aug 2.

Division of Urology, Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1158/1055-9965.EPI-16-0373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093030PMC
November 2016

Visualizing tumor evolution with the fishplot package for R.

BMC Genomics 2016 11 7;17(1):880. Epub 2016 Nov 7.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63108, USA.

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http://dx.doi.org/10.1186/s12864-016-3195-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100182PMC
November 2016

TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes.

N Engl J Med 2016 11;375(21):2023-2036

the Department of Internal Medicine, Division of Oncology (J.S.W., L.D.W., G.L.U., A.G., M.H.T., I.P., R.R., T.A.F., K.E.S.-G., R.V., S.T.O., C.N.A., A.F.C., M.A.S., M.A.J., S.E.H., K.L., M.R.J., M.J.W., P.W., D.C.L., J.F.D., T.J.L.), and the Division of Biostatistics (J.D.B.), and the Department of Pathology and Immunology (E.J.D., B.T., Y.-S.L.), Washington University School of Medicine, and McDonnell Genome Institute, Washington University in St. Louis (A.A.P., C.A.M., C.C.F., M.O., R.S.F., R.K.W., L.D.W., T.J.L.) - both in St. Louis; the Departments of Internal Medicine (A.H., N.K., M.J.S., W.S.) and Pharmacy (R.W.K.), University of Chicago, Chicago; and the Department of Internal Medicine (T.A.G.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1056/NEJMoa1605949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217532PMC
November 2016

Truncating Prolactin Receptor Mutations Promote Tumor Growth in Murine Estrogen Receptor-Alpha Mammary Carcinomas.

Cell Rep 2016 09;17(1):249-260

McDonnell Genome Institute, Washington University School of Medicine, 4444 Forest Park Ave., St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, 660 S Euclid Ave., St. Louis, MO 63110, USA; Siteman Cancer Center, Washington University School of Medicine, 4921 Parkview Pl., St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, 660 S Euclid Ave., St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.08.076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557050PMC
September 2016

Genomic analysis reveals hidden biodiversity within colugos, the sister group to primates.

Sci Adv 2016 08 10;2(8):e1600633. Epub 2016 Aug 10.

Department of Veterinary Integrative Biosciences, Interdisciplinary Program in Genetics, Texas A&M University, College Station, TX 77843, USA.

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http://dx.doi.org/10.1126/sciadv.1600633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980104PMC
August 2016

Using SomaticSniper to Detect Somatic Single Nucleotide Variants.

Curr Protoc Bioinformatics 2014 ;45:15.5.1-8

The Genome Institute at Washington University, St. Louis, Missouri.

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http://dx.doi.org/10.1002/0471250953.bi1505s45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4242521PMC
July 2016

Whole Body Melanoma Transcriptome Response in Medaka.

PLoS One 2015 29;10(12):e0143057. Epub 2015 Dec 29.

McDonnell Genome Institute at Washington University, 4444 Forest Park Blvd., St Louis, MO, 63108, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0143057PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4699850PMC
July 2016

Long-read sequence assembly of the gorilla genome.

Science 2016 Apr;352(6281):aae0344

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1126/science.aae0344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920363PMC
April 2016

DGIdb 2.0: mining clinically relevant drug-gene interactions.

Nucleic Acids Res 2016 Jan 3;44(D1):D1036-44. Epub 2015 Nov 3.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA

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http://dx.doi.org/10.1093/nar/gkv1165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702839PMC
January 2016

INTEGRATE: gene fusion discovery using whole genome and transcriptome data.

Genome Res 2016 Jan 10;26(1):108-18. Epub 2015 Nov 10.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63110, USA; Department of Internal Medicine, Division of Oncology, Washington University School of Medicine, St. Louis, Missouri 63110, USA; Alvin J. Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri 63110, USA; Department of Biomedical Engineering, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1101/gr.186114.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691743PMC
January 2016

Genetic heterogeneity of induced pluripotent stem cells: results from 24 clones derived from a single C57BL/6 mouse.

PLoS One 2015 23;10(3):e0120585. Epub 2015 Mar 23.

Section of Stem Cell Biology, Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120585PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370741PMC
December 2015

Germline Mutations in Predisposition Genes in Pediatric Cancer.

N Engl J Med 2015 Dec 18;373(24):2336-2346. Epub 2015 Nov 18.

Departments of Computational Biology (J.Z., G.W., M.N.E., D.H., X.M., X.Z., M.R.W., X.C., M.R., A.P., J.B.B., S.W.), Oncology (M.F.W., T.A.G., R.B.M., S.H.-D., R.N., E.Q., A.G., A.S.P., C.-H.P., K.E.N.), and Pathology (T.A.G., M.R.W., S.A.S., D.W.E., C.-H.P., J.R.D.) and the Pediatric Cancer Genome Project (J.Z., M.F.W., G.W., M.N.E., T.A.G., J.E., X.M., D.A.Y., B.V., X.C., R.B.M., S.H.-D., R.N., E.Q., S.A.S., M.R., A.P., J.B.B., S.W., M.S.W., A.G., D.W.E., A.S.P., C.-H.P., K.E.N., J.R.D.), St. Jude Children's Research Hospital, Memphis, TN; and the Department of Genetics and McDonnell Genome Institute, Washington University School of Medicine in St. Louis, St. Louis (L.D., E.R.M., R.K.W.).

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http://dx.doi.org/10.1056/NEJMoa1508054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4734119PMC
December 2015

Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection.

Authors:
Rafael D Mesquita Raquel J Vionette-Amaral Carl Lowenberger Rolando Rivera-Pomar Fernando A Monteiro Patrick Minx John Spieth A Bernardo Carvalho Francisco Panzera Daniel Lawson André Q Torres Jose M C Ribeiro Marcos H F Sorgine Robert M Waterhouse Michael J Montague Fernando Abad-Franch Michele Alves-Bezerra Laurence R Amaral Helena M Araujo Ricardo N Araujo L Aravind Georgia C Atella Patricia Azambuja Mateus Berni Paula R Bittencourt-Cunha Gloria R C Braz Gustavo Calderón-Fernández Claudia M A Carareto Mikkel B Christensen Igor R Costa Samara G Costa Marilvia Dansa Carlos R O Daumas-Filho Iron F De-Paula Felipe A Dias George Dimopoulos Scott J Emrich Natalia Esponda-Behrens Patricia Fampa Rita D Fernandez-Medina Rodrigo N da Fonseca Marcio Fontenele Catrina Fronick Lucinda A Fulton Ana Caroline Gandara Eloi S Garcia Fernando A Genta Gloria I Giraldo-Calderón Bruno Gomes Katia C Gondim Adriana Granzotto Alessandra A Guarneri Roderic Guigó Myriam Harry Daniel S T Hughes Willy Jablonka Emmanuelle Jacquin-Joly M Patricia Juárez Leonardo B Koerich Angela B Lange José Manuel Latorre-Estivalis Andrés Lavore Gena G Lawrence Cristiano Lazoski Claudio R Lazzari Raphael R Lopes Marcelo G Lorenzo Magda D Lugon David Majerowicz Paula L Marcet Marco Mariotti Hatisaburo Masuda Karine Megy Ana C A Melo Fanis Missirlis Theo Mota Fernando G Noriega Marcela Nouzova Rodrigo D Nunes Raquel L L Oliveira Gilbert Oliveira-Silveira Sheila Ons Ian Orchard Lucia Pagola Gabriela O Paiva-Silva Agustina Pascual Marcio G Pavan Nicolás Pedrini Alexandre A Peixoto Marcos H Pereira Andrew Pike Carla Polycarpo Francisco Prosdocimi Rodrigo Ribeiro-Rodrigues Hugh M Robertson Ana Paula Salerno Didier Salmon Didac Santesmasses Renata Schama Eloy S Seabra-Junior Livia Silva-Cardoso Mario A C Silva-Neto Matheus Souza-Gomes Marcos Sterkel Mabel L Taracena Marta Tojo Zhijian Jake Tu Jose M C Tubio Raul Ursic-Bedoya Thiago M Venancio Ana Beatriz Walter-Nuno Derek Wilson Wesley C Warren Richard K Wilson Erwin Huebner Ellen M Dotson Pedro L Oliveira

Proc Natl Acad Sci U S A 2015 Dec 16;112(48):14936-41. Epub 2015 Nov 16.

Instituto Nacional de Ciência e Tecnologia em Entomologia Molecular, Rio de Janeiro 21941-591, Brazil; Programa de Biologia Molecular e Biotecnologia, Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-591, Brazil;

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http://dx.doi.org/10.1073/pnas.1506226112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672799PMC
December 2015

Cracking the nodule worm code advances knowledge of parasite biology and biotechnology to tackle major diseases of livestock.

Biotechnol Adv 2015 Nov 27;33(6 Pt 1):980-91. Epub 2015 May 27.

The Genome Institute, Washington University in St. Louis, MO 63108, USA; Division of Infectious Diseases, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biotechadv.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746232PMC
November 2015

Genetic variation and the de novo assembly of human genomes.

Nat Rev Genet 2015 Nov 7;16(11):627-40. Epub 2015 Oct 7.

Department of Genome Sciences, University of Washington, Foege Building S-413A, Box 355065, 3720 15th Ave NE, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1038/nrg3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745987PMC
November 2015

Optimizing cancer genome sequencing and analysis.

Cell Syst 2015 Sep;1(3):210-223

The McDonnell Genome Institute, Washington University, St. Louis, MO, USA, 63108 ; Department of Genetics, Washington University, St. Louis, MO, USA, 63108 ; Siteman Cancer Center, Washington University, St. Louis, MO, USA, 63108 ; Department of Medicine, Washington University, St. Louis, MO, USA, 63108.

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http://dx.doi.org/10.1016/j.cels.2015.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669575PMC
September 2015

Alzheimer's disease: rare variants with large effect sizes.

Curr Opin Genet Dev 2015 Aug 22;33:49-55. Epub 2015 Aug 22.

Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave. B8134, St. Louis, MO 63110, USA; Hope Center for Neurological Disorders. Washington University School of Medicine, 660 S. Euclid Ave. B8111, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2015.07.008DOI Listing
August 2015

Genome Modeling System: A Knowledge Management Platform for Genomics.

PLoS Comput Biol 2015 Jul 9;11(7):e1004274. Epub 2015 Jul 9.

The Genome Institute, Washington University in St. Louis, St. Louis, Missouri, United States of America; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America; Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, United States of America; Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri, United States of America; Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1004274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497734PMC
July 2015

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Nat Genet 2014 Dec 19;46(12):1293-302. Epub 2014 Oct 19.

1] Department of Genome Sciences, University of Washington, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244265PMC
December 2014

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nat Med 2014 Dec 19;20(12):1472-8. Epub 2014 Oct 19.

1] The Genome Institute, Washington University in St. Louis, St. Louis, Missouri, USA. [2] Department of Medicine, Washington University in St. Louis, St. Louis, Missouri, USA. [3] Department of Genetics, Washington University in St. Louis, St. Louis, Missouri, USA. [4] Siteman Cancer Center, Washington University in St. Louis, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/nm.3733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313872PMC
December 2014

Comparative genomics reveals insights into avian genome evolution and adaptation.

Science 2014 Dec 11;346(6215):1311-20. Epub 2014 Dec 11.

China National GeneBank, Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen, 518083, China. Macau University of Science and Technology, Avenida Wai long, Taipa, Macau 999078, China. Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, 2200 Copenhagen, Denmark. Princess Al Jawhara Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589, Saudi Arabia. Department of Medicine, University of Hong Kong, Hong Kong.

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http://jarvislab.net/wp-content/uploads/2014/12/Science-2014
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http://www.sciencemag.org/cgi/doi/10.1126/science.1251385
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http://dx.doi.org/10.1126/science.1251385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390078PMC
December 2014

Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

Cell 2014 Nov 30;159(4):800-13. Epub 2014 Oct 30.

Whitehead Institute, 9 Cambridge Center, Cambridge, MA 02142, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260969PMC
November 2014

Gibbon genome and the fast karyotype evolution of small apes.

Nature 2014 Sep;513(7517):195-201

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nature13679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4249732PMC
September 2014

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection.

Curr Protoc Bioinformatics 2013 Dec;44:15.4.1-17

The Genome Institute at Washington University in St. Louis, Missouri, USA, 63108.

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http://dx.doi.org/10.1002/0471250953.bi1504s44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278659PMC
December 2013