Martin G Reese

Martin G Reese

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Martin G Reese

Martin G Reese

Publications by authors named "Martin G Reese"

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Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

Genet Med 2015 May 25;17(5):337-47. Epub 2014 Sep 25.

1] Parabase Genomics, Boston, Massachusetts, USA [2] Division of Genetics, Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, USA.

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http://dx.doi.org/10.1038/gim.2014.117DOI Listing
May 2015

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Am J Hum Genet 2014 Apr;94(4):599-610

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980410PMC
April 2014

Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.

Curr Protoc Hum Genet 2014 Apr 24;81:6.14.1-25. Epub 2014 Apr 24.

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah; These authors collectively are the first authors of the unit.

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http://dx.doi.org/10.1002/0471142905.hg0614s81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137768PMC
April 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

PeerJ 2013 3;1:e177. Epub 2013 Oct 3.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory , NY , USA ; Stony Brook University , Stony Brook, NY , USA.

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http://dx.doi.org/10.7717/peerj.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792182PMC
October 2013

VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix.

Genet Epidemiol 2013 Sep 8;37(6):622-34. Epub 2013 Jul 8.

Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, USA.

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http://dx.doi.org/10.1002/gepi.21743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791556PMC
September 2013

A probabilistic disease-gene finder for personal genomes.

Genome Res 2011 Sep 23;21(9):1529-42. Epub 2011 Jun 23.

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1101/gr.123158.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166837PMC
September 2011

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.

PLoS Comput Biol 2008 Nov 7;4(11):e1000218. Epub 2008 Nov 7.

Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1000218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2565504PMC
November 2008

EGASP: Introduction.

Genome Biol 2006 7;7 Suppl 1:S1.1-3. Epub 2006 Aug 7.

Omicia Inc, Christie Ave, Emeryville, CA 94608, USA.

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http://dx.doi.org/10.1186/gb-2006-7-s1-s1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1810546PMC
September 2006

EGASP: collaboration through competition to find human genes.

Nat Methods 2005 Aug;2(8):575-7

Municipal Institute of Medical Research and Center for Genomic Regulation, University Pompeu Fabra, C/ Dr. Aiguader 80, 08003 Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/nmeth0805-575DOI Listing
August 2005