Hugo Y. K. Lam

发表

Measuring the Evolutionary Rewiring of Biological Networks

Mark Gerstein, Michael Snyder, Nitin Bhardwaj, 2011, PLoS Comput. Biol..

Deep convolutional neural networks for accurate somatic mutation detection

Sayed Mohammad Ebrahim Sahraeian, Marghoob Mohiyuddin, Hugo Y. K. Lam, 2018, bioRxiv.

Using Web Ontology Language to Integrate Heterogeneous Databases in the Neurosciences

Kei-Hoi Cheung, Perry L. Miller, Luis N. Marenco, 2006, AMIA.

Pseudofam: the pseudogene families database

Kei-Hoi Cheung, Mark Gerstein, Nicholas Carriero, 2008, Nucleic Acids Res..

Deep convolutional neural networks for accurate somatic mutation detection

Hugo Y. K. Lam, Sayed Mohammad Ebrahim Sahraeian, Marghoob Mohiyuddin, 2018, Nature Communications.

Open Access Methodology Article Motips: Automated Motif Analysis for Predicting Targets of Modular Protein Domains

Mark Gerstein, Michael Snyder, Sachdev S. Sidhu, 2022 .

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

Mark Gerstein, Jian Li, Alexej Abyzov, 2014, Bioinform..

SenseLab: new developments in disseminating neuroscience information

Kei-Hoi Cheung, Huajun Chen, Perry L. Miller, 2007, Briefings Bioinform..

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing

Mark Gerstein, Jian Li, Alexej Abyzov, 2015, Bioinform..

Abstract 1510: Subtype-specific cancer driver gene detection improves sensitivity to detect drivers

Hugo Y. K. Lam, Yao Fu, Aparna Chhibber, 2016 .

VarSim: a simulation validation framework for alignment and variant calling in high-throughput genome sequencing

Mark Gerstein, Jian Li, Alexej Abyzov, 2014 .

LongISLND: in silico sequencing of lengthy and noisy datatypes

Marghoob Mohiyuddin, Hugo Y. K. Lam, Bayo Lau, 2016, Bioinform..

svclassify: a method to establish benchmark structural variant calls

Marc L. Salit, Wolfgang Losert, Noah Spies, 2015 .

Abstract LB-306: An ensemble approach to accurately detect somatic mutations via adaptive boosting

Wing Hung Wong, Hugo Y. K. Lam, Narges Bani Asadi, 2015 .

svclassify: a method to establish benchmark structural variant calls

Wolfgang Losert, Noah Spies, Marc Salit, 2016, BMC Genomics.

AlzPharm: integration of neurodegeneration data using RDF

Kei-Hoi Cheung, Perry L. Miller, Yong Gao, 2007, BMC Bioinformatics.

Mapping copy number variation by population scale genome sequencing

Kenny Q. Ye, G. T. Marth, Hugo Y. K. Lam, 2010, Nature.

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history.

Hugo Y. K. Lam, Philip M. Kim, M. Gerstein, 2008, Genome research.

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

Hugo Y. K. Lam, M. Gerstein, Donald Sharon, 2012, Cell.

An Integrated Encyclopedia of DNA Elements in the Human Genome

Raymond K. Auerbach, William Stafford Noble, Stephen C. J. Parker, 2012, Nature.

Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods

Hugo Y. K. Lam, M. Gerstein, X. Chen, 2015, Scientific Reports.

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

Gabor T. Marth, Hugo Y. K. Lam, Miriam K. Konkel, 2015, Nature.

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

Hugo Y. K. Lam, Philip M. Kim, M. Gerstein, 2010, Nature Biotechnology.

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

Raymond K. Auerbach, William Stafford Noble, Stephen C. J. Parker, 2011, PLoS biology.

Deciphering Protein Kinase Specificity through Large-scale Analysis of Materials Supplemental Deciphering Protein Kinase Specificity through Large-scale Analysis of Yeast Phosphorylation Site Motifs

Bruce Stillman, Hugo Y. K. Lam, Philip M. Kim, 2010 .

Performance comparison of exome DNA sequencing technologies

Hugo Y. K. Lam, Michael P. Snyder, A. Butte, 2011, Nature Biotechnology.

Identification of genomic indels and structural variations using split reads

Hugo Y. K. Lam, M. Gerstein, A. Abyzov, 2011, BMC Genomics.

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

Hugo Y. K. Lam, M. Gerstein, M. Hurles, 2015, Nature Communications.

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

Hugo Y. K. Lam, M. Gerstein, M. Hurles, 2015, Nature Communications.

An ensemble approach to accurately detect somatic mutations using SomaticSeq

Hugo Y. K. Lam, M. Gerstein, W. Wong, 2015, Genome Biology.

Detecting and annotating genetic variations using the HugeSeq pipeline

Hugo Y. K. Lam, M. Gerstein, Michael P. Snyder, 2012, Nature Biotechnology.

Performance comparison of whole-genome sequencing platforms

Euan A Ashley, Rong Chen, Michael Snyder, 2011, Nature Biotechnology.

Semantic Web Meets e-Neuroscience : An RDF Use Case

Kei-Hoi Cheung, Nian Liu, Luis N. Marenco, 2006 .

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

Adrian M. Stütz, Jan O. Korbel, Wan-Ping Lee, 2011, PLoS genetics.

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

Mark Gerstein, Hugo Y. K. Lam, Joel Rozowsky, 2007, Genome Biology.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Genome-Wide Identification of Binding Sites Defines Distinct Functions for Caenorhabditis elegans PHA-4/FOXA in Development and Environmental Response

Raymond K. Auerbach, Mark Gerstein, Anthony A. Hyman, 2010, PLoS genetics.

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

Zhi John Lu, Mark B. Gerstein, Hugo Y. K. Lam, 2011, Nucleic acids research.

Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis

Wing Hung Wong, Sayed Mohammad Ebrahim Sahraeian, Kin Fai Au, 2017, Nature Communications.

“The Secret Life of Human Donor Hearts”

Hugo Y. K. Lam, F. Pagani, P. Ma, 2020, Circulation. Heart failure.

Establishing reference samples for detection of somatic mutations and germline variants with NGS technologies

Hugo Y. K. Lam, Daoud M. Meerzaman, S. Sherry, 2019, bioRxiv.

Corrigendum: Performance comparison of whole-genome sequencing platforms

Hanlee P. Ji, Hugo Y. K. Lam, M. Gerstein, 2012, Nature Biotechnology.

Computational analysis on genomic variation: Detecting and characterizing structural variants in the human genome

Hugo Y. K. Lam, 2010 .

HypaCADD Manuscript Main Rev 1.0.docx

Hugo Y. K. Lam, Prashant S. Emani, M. Gerstein, 2022 .

Segmental duplications in the human genome reveal details of pseudogene formation

Hugo Y. K. Lam, M. Gerstein, N. Carriero, 2010, Nucleic acids research.

Circular DNA elements of chromosomal origin are common in healthy human somatic tissue

Michael P Snyder, Henriette Pilegaard, Marghoob Mohiyuddin, 2018, Nature Communications.

Insights from incorporating quantum computing into drug design workflows

Hugo Y. K. Lam, M. Gerstein, Bayo Lau, 2022, bioRxiv.

ecTMB: a robust method to estimate and classify tumor mutational burden

Hugo Y. K. Lam, M. Mohiyuddin, Lijing Yao, 2019, Scientific Reports.

formation in recent evolutionary history the human genome : Evidence for a change in the process of Analysis of copy number variants and segmental duplications in

Hugo Y. K. Lam, Philip M. Kim, M. Gerstein, 2008 .

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

Hugo Y. K. Lam, G. Nolan, A. Butte, 2018, Genome research.

Lessons from the CAGI‐4 Hopkins clinical panel challenge

Hugo Y. K. Lam, David T. Jones, Aashish N. Adhikari, 2017, Human mutation.

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

Hugo Y. K. Lam, Winnie S. Liang, Daoud M. Meerzaman, 2021, Nature Biotechnology.

Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis

Hugo Y. K. Lam, M. Gerstein, Hagen U. Tilgner, 2017, Nature Communications.

MetaSV: an accurate method-aware merging algorithm for structural variations

Hugo Y. K. Lam, M. Gerstein, W. Wong, 2014 .

Deep convolutional neural networks for accurate somatic mutation detection

Hugo Y. K. Lam, Bayo Lau, M. Mohiyuddin, 2018, bioRxiv.

HypaCADD Manuscript Supp Rev 1.0.docx

Hugo Y. K. Lam, M. Gerstein, Bayo Lau, 2022 .

Mapping copy number variation by population scale genome sequencing

Joshua M. Korn, Kenny Q. Ye, G. T. Marth, 2010, Nature.

svclassify: a method to establish benchmark structural variant calls

Hugo Y. K. Lam, Mark Pratt, J. Zook, 2015, bioRxiv.

formation in recent evolutionary history the human genome: Evidence for a change in the process of Analysis of copy number variants and segmental duplications in

Hugo Y. K. Lam, Philip M. Kim, A. Urban, 2008 .

MOTIPS: Automated Motif Analysis for Predicting Targets of Modular Protein Domains

Hugo Y. K. Lam, Philip M. Kim, M. Gerstein, 2010, BMC Bioinformatics.

AlzPharm: integration of neurodegeneration data using RDF

Luis N. Marenco, Thomas M. Morse, Hugo Y. K. Lam, 2007, BMC Bioinformatics.

Deciphering Protein Kinase Specificity Through Large-Scale Analysis of Yeast Phosphorylation Site Motifs

Hugo Y. K. Lam, Philip M. Kim, M. Gerstein, 2010, Science Signaling.

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

Hugo Y. K. Lam, M. Gerstein, Zhengdong D. Zhang, 2007, Genome Biology.

Performance comparison of exome DNA sequencing technologies

Hugo Y. K. Lam, Michael P. Snyder, A. Butte, 2011, Nature Biotechnology.