Hugo Y Lam

Hugo Y K Lam

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Hugo Y Lam

Hugo Y K Lam

Publications by authors named "Hugo Y K Lam"

33Publications

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1PubMed Central Citations

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Res 2018 04 22;28(4):423-431. Epub 2018 Mar 22.

Baxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Stanford University, Stanford, California 94305, USA.

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http://dx.doi.org/10.1101/gr.223693.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880234PMC
April 2018

LongISLND: in silico sequencing of lengthy and noisy datatypes.

Bioinformatics 2016 12 25;32(24):3829-3832. Epub 2016 Sep 25.

Roche Sequencing Solutions, Belmont, CA 94002, USA.

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http://dx.doi.org/10.1093/bioinformatics/btw602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167071PMC
December 2016

svclassify: a method to establish benchmark structural variant calls.

BMC Genomics 2016 Jan 16;17:64. Epub 2016 Jan 16.

Genome-Scale Measurements Group, Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8313, Gaithersburg, MD, 20899, USA.

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http://dx.doi.org/10.1186/s12864-016-2366-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715349PMC
January 2016

An integrated map of structural variation in 2,504 human genomes.

Nature 2015 Oct;526(7571):75-81

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.

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http://dx.doi.org/10.1038/nature15394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617611PMC
October 2015

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.

Nat Commun 2015 Jun 1;6:7256. Epub 2015 Jun 1.

1] Program in Computational Biology and Bioinformatics, Yale University, 266 Whitney Avenue, New Haven, Connecticut 06520, USA [2] Department of Molecular Biophysics and Biochemistry, School of Medicine, Yale University, New Haven, Connecticut 06520, USA [3] Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1038/ncomms8256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451611PMC
June 2015

VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications.

Bioinformatics 2015 May 17;31(9):1469-71. Epub 2014 Dec 17.

Department of Electrical Engineering, Stanford University, Stanford, CA 94035, USA, Department of Bioinformatics, Bina Technologies, Redwood City, CA 94065, USA, Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA, Mayo Clinics, Department of Health Sciences Research, Rochester, MN 55902, USA, Department of Statistics, Stanford University, Stanford, CA 94035, USA and Department of Health Research and Policy, Stanford University, Stanford, CA 94035, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410653PMC
May 2015

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.

Nucleic Acids Res 2011 Sep 19;39(16):7058-76. Epub 2011 May 19.

Program in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, W.M. Keck Foundation Biotechnology Resource Laboratory, Yale University, New Haven, CT 06520, USA.

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http://nar.oxfordjournals.org/content/early/2011/05/19/nar.g
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http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gkr342
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http://dx.doi.org/10.1093/nar/gkr342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167619PMC
September 2011

Performance comparison of exome DNA sequencing technologies.

Nat Biotechnol 2011 Sep 25;29(10):908-14. Epub 2011 Sep 25.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1038/nbt.1975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127531PMC
September 2011

Measuring the evolutionary rewiring of biological networks.

PLoS Comput Biol 2011 Jan 6;7(1):e1001050. Epub 2011 Jan 6.

Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1001050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3017101PMC
January 2011

Segmental duplications in the human genome reveal details of pseudogene formation.

Nucleic Acids Res 2010 Nov 8;38(20):6997-7007. Epub 2010 Jul 8.

Program in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.

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http://dx.doi.org/10.1093/nar/gkq587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978362PMC
November 2010

MOTIPS: automated motif analysis for predicting targets of modular protein domains.

BMC Bioinformatics 2010 May 11;11:243. Epub 2010 May 11.

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1186/1471-2105-11-243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882932PMC
May 2010

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.

Nat Biotechnol 2010 Jan 27;28(1):47-55. Epub 2009 Dec 27.

Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA.

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http://www.nature.com/articles/nbt.1600
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http://dx.doi.org/10.1038/nbt.1600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2951730PMC
January 2010

Pseudofam: the pseudogene families database.

Nucleic Acids Res 2009 Jan 28;37(Database issue):D738-43. Epub 2008 Oct 28.

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1093/nar/gkn758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686518PMC
January 2009

Using web ontology language to integrate heterogeneous databases in the neurosciences.

AMIA Annu Symp Proc 2006 :464-8

Interdepartmental Program Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1839283PMC
September 2007

Tilescope: online analysis pipeline for high-density tiling microarray data.

Genome Biol 2007 ;8(5):R81

Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.

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http://genomebiology.biomedcentral.com/articles/10.1186/gb-2
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http://dx.doi.org/10.1186/gb-2007-8-5-r81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1929149PMC
September 2007

AlzPharm: integration of neurodegeneration data using RDF.

BMC Bioinformatics 2007 May 9;8 Suppl 3:S4. Epub 2007 May 9.

Interdepartmental Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.

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http://dx.doi.org/10.1186/1471-2105-8-S3-S4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1892101PMC
May 2007