Publications by authors named "Pauline C Ng"

27Publications

ChronQC: a quality control monitoring system for clinical next generation sequencing.

Bioinformatics 2018 05;34(10):1799-1800

Computational and Systems Biology, Genome Institute of Singapore, Genome, #02-01, Singapore 138672, Singapore.

View Article and Find Full Text PDF
May 2018

Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer.

J Mol Diagn 2016 05 9;18(3):416-424. Epub 2016 Mar 9.

Genome Institute of Singapore, Singapore; Cancer & Stem Cell Biology Program, Duke-National University of Singapore Graduate Medical School, Singapore; Cancer Science Institute Singapore, National University of Singapore, Singapore; Division of Cellular and Molecular Research, National Cancer Centre Singapore, Singapore. Electronic address:

View Article and Find Full Text PDF
May 2016

SIFT missense predictions for genomes.

Nat Protoc 2016 Jan 3;11(1):1-9. Epub 2015 Dec 3.

Computational and Systems Biology Group, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

View Article and Find Full Text PDF
January 2016

Phen-Gen: combining phenotype and genotype to analyze rare disorders.

Nat Methods 2014 Sep 3;11(9):935-7. Epub 2014 Aug 3.

Computational and Systems Biology Group, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore.

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
March 2014

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu.

Int J Epidemiol 2015 Aug 11;44(4):1137-47. Epub 2014 Feb 11.

Estonian Genome Center, University of Tartu, Tartu, Estonia, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia, Estonian Biocentre, Tartu, Estonia

View Article and Find Full Text PDF
August 2015

SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins.

PLoS One 2013 23;8(10):e77940. Epub 2013 Oct 23.

Department of Mathematics and Computer Science, Franklin and Marshall College, Lancaster, Pennsylvania, United States of America.

View Article and Find Full Text PDF
February 2015

Predicting cancer drivers: are we there yet?

Genome Med 2012 26;4(11):88. Epub 2012 Nov 26.

Computational and Mathematical Biology, Genome Institute of Singapore, 60 Biopolis Street, Genome, #02-01, Singapore 138672.

View Article and Find Full Text PDF
May 2014

SIFT web server: predicting effects of amino acid substitutions on proteins.

Nucleic Acids Res 2012 Jul 11;40(Web Server issue):W452-7. Epub 2012 Jun 11.

Computational and Systems Biology, Genome Institute of Singapore, Singapore.

View Article and Find Full Text PDF
July 2012

Predicting the effects of frameshifting indels.

Genome Biol 2012 Feb 9;13(2):R9. Epub 2012 Feb 9.

Department of Mathematics and Computer Science, Franklin and Marshall College, 415 Harrisburg Ave, Lancaster, PA 17603, USA.

View Article and Find Full Text PDF
February 2012

A mechanism for TCR sharing between T cell subsets and individuals revealed by pyrosequencing.

J Immunol 2011 Apr 7;186(7):4285-94. Epub 2011 Mar 7.

Computational Biology Group, Centre for Vascular Research, University of New South Wales, Sydney, New South Wales 2052, Australia.

View Article and Find Full Text PDF
April 2011

Whole genome sequencing.

Methods Mol Biol 2010 ;628:215-26

The J. Craig Venter Institute, Rockville, MD, USA.

View Article and Find Full Text PDF
May 2010

An agenda for personalized medicine.

Nature 2009 Oct;461(7265):724-6

J. Craig Venter Institute, Science Center Drive, San Diego, California 92121, USA.

View Article and Find Full Text PDF
October 2009

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Nat Protoc 2009 25;4(7):1073-81. Epub 2009 Jun 25.

Department of Genomic Medicine, J. Craig Venter Institute, San Diego, California, USA.

View Article and Find Full Text PDF
November 2009

Evaluation of next generation sequencing platforms for population targeted sequencing studies.

Genome Biol 2009 27;10(3):R32. Epub 2009 Mar 27.

Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA.

View Article and Find Full Text PDF
July 2009

The HuRef Browser: a web resource for individual human genomics.

Nucleic Acids Res 2009 Jan 26;37(Database issue):D1018-24. Epub 2008 Nov 26.

J. Craig Venter Institute, 9704 Medical Center Drive, Rockville, MD 20850, USA.

View Article and Find Full Text PDF
January 2009

Genetic variation in an individual human exome.

PLoS Genet 2008 Aug 15;4(8):e1000160. Epub 2008 Aug 15.

J Craig Venter Institute, Rockville, Maryland, United States of America.

View Article and Find Full Text PDF
August 2008

Predicting the effects of amino acid substitutions on protein function.

Annu Rev Genomics Hum Genet 2006 ;7:61-80

Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

View Article and Find Full Text PDF
April 2008

SIFT: Predicting amino acid changes that affect protein function.

Nucleic Acids Res 2003 Jul;31(13):3812-4

Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N A1-162, Seattle, WA 98109, USA.

View Article and Find Full Text PDF
July 2003

Accounting for human polymorphisms predicted to affect protein function.

Genome Res 2002 Mar;12(3):436-46

Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

View Article and Find Full Text PDF
March 2002