Skip to Main Content

Author Details

Kai Wang
University of Pennsylvania
2001
186
54
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36759776Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.BMC Bioinformatics2023
38016949PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.Nat Commun2023
37895242Assessing the Expression of Long INterspersed Elements (LINEs) via Long-Read Sequencing in Diverse Human Tissues and Cell Lines.Genes (Basel)2023
36759776Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.BMC Bioinformatics2023
37386186A survey of algorithms for the detection of genomic structural variants from long-read sequencing data.Nat Methods2023
38016949PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.Nat Commun2023
37895242Assessing the Expression of Long INterspersed Elements (LINEs) via Long-Read Sequencing in Diverse Human Tissues and Cell Lines.Genes (Basel)2023
37386186A survey of algorithms for the detection of genomic structural variants from long-read sequencing data.Nat Methods2023
34839581Population differentiation and epidemic tracking of Bursaphelenchus xylophilus in China based on chromosome-level assembly and whole-genome sequencing data.Pest Manag Sci2022
35970914KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.Eur J Hum Genet2022
35769412Epigenetic dysregulation in meningiomas.Neurooncol Adv2022
35655307Expediting knowledge acquisition by a web framework for Knowledge Graph Exploration and Visualization (KGEV): case studies on COVID-19 and Human Phenotype Ontology.BMC Med Inform Decis Mak2022
35902925PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.BMC Med Inform Decis Mak2022
35998640OARD: Open annotations for rare diseases and their phenotypes based on real-world data.Am J Hum Genet2022
35484600DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing.Genome Biol2022
36068227Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders.NPJ Syst Biol Appl2022
35610477Polishing high-quality genome assemblies.Nat Methods2022
35606697Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records.J Neurodev Disord2022
34864916Single-cell multiomics reveals increased plasticity, resistant populations, and stem-cell-like blasts in KMT2A-rearranged leukemia.Blood2022
34839581Population differentiation and epidemic tracking of Bursaphelenchus xylophilus in China based on chromosome-level assembly and whole-genome sequencing data.Pest Manag Sci2022
35769412Epigenetic dysregulation in meningiomas.Neurooncol Adv2022
35610477Polishing high-quality genome assemblies.Nat Methods2022
35606697Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records.J Neurodev Disord2022
35484600DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing.Genome Biol2022
35655307Expediting knowledge acquisition by a web framework for Knowledge Graph Exploration and Visualization (KGEV): case studies on COVID-19 and Human Phenotype Ontology.BMC Med Inform Decis Mak2022
35970914KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.Eur J Hum Genet2022
35998640OARD: Open annotations for rare diseases and their phenotypes based on real-world data.Am J Hum Genet2022
36068227Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders.NPJ Syst Biol Appl2022
35902925PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.BMC Med Inform Decis Mak2022
34864916Single-cell multiomics reveals increased plasticity, resistant populations, and stem-cell-like blasts in KMT2A-rearranged leukemia.Blood2022
34140043LIQA: long-read isoform quantification and analysis.Genome Biol2021
34169279A computational method for direct imputation of cell type-specific expression profiles and cellular compositions from bulk-tissue RNA-Seq in brain disorders.NAR Genom Bioinform2021
34034817PhenCards: a data resource linking human phenotype information to biomedical knowledge.Genome Med2021
34140043LIQA: long-read isoform quantification and analysis.Genome Biol2021
34440331Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.Genes (Basel)2021
34488830NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks.Genome Biol2021
34440331Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.Genes (Basel)2021
34488830NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks.Genome Biol2021
34034817PhenCards: a data resource linking human phenotype information to biomedical knowledge.Genome Med2021
34169279A computational method for direct imputation of cell type-specific expression profiles and cellular compositions from bulk-tissue RNA-Seq in brain disorders.NAR Genom Bioinform2021
31506324Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).J Med Genet2020
32143829Gene Expression in Patient-Derived Neural Progenitors Implicates WNT5A Signaling in the Etiology of Schizophrenia.Biol Psychiatry2020
32061453Single and repeated ketamine treatment induces perfusion changes in sensory and limbic networks in major depressive disorder.Eur Neuropsychopharmacol2020
31705731Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Hum Mutat2020
33380331Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder.BMC Med Inform Decis Mak2020
32714371EHR2Vec: Representation Learning of Medical Concepts From Temporal Patterns of Clinical Notes Based on Self-Attention Mechanism.Front Genet2020
33372596LongGF: computational algorithm and software tool for fast and accurate detection of gene fusions by long-read transcriptome sequencing.BMC Genomics2020
33371889Genome-wide detection of short tandem repeat expansions by long-read sequencing.BMC Bioinformatics2020
  • 1 - 50 of 372

Recommended Authors

Goo Jun
University of Texas Health Science Center at Houston
Career Start Year 2012
Number of shared co-authors 26
Ben Weisburd
Broad Institute of MIT and Harvard
Career Start Year 2012
Number of shared co-authors 20
Manuel Holtgrewe
Berlin Institute of Health
Career Start Year 2011
Number of shared co-authors 16
Konrad J Karczewski
Broad Institute of MIT and Harvard
Career Start Year 2010
Number of shared co-authors 43
Christopher DeBoever
Stanford University
Career Start Year 2010
Number of shared co-authors 4
Aaron M Wenger
Stanford School of Medicine
Career Start Year 2010
Number of shared co-authors 6
Martin Kircher
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
Career Start Year 2008
Number of shared co-authors 12
Kurt N Hetrick
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Career Start Year 2007
Number of shared co-authors 19
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Career Start Year 2007
Number of shared co-authors 17
Peilin Jia
Center for Precision Health, The University of Texas Health Science Center at Houston
Career Start Year 2006
Number of shared co-authors 15
Praveen F Cherukuri
Sanford School of Medicine, University of South Dakota
Career Start Year 2005
Number of shared co-authors 7
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 36
Tushar Bhangale
Genentech Inc.
Career Start Year 2004
Number of shared co-authors 39
Vikas Bansal
University of California San Diego
Career Start Year 2004
Number of shared co-authors 27
Shane McCarthy
Wellcome Sanger Institute
Career Start Year 2004
Number of shared co-authors 39
David W Craig
University of Southern California
Career Start Year 2004
Number of shared co-authors 65
Alicia Hawes
Regeneron Pharmaceuticals Inc.
Career Start Year 2004
Number of shared co-authors 34
Beth Wilmot
Knight Cancer Institute, Oregon Health & Science University
Career Start Year 2004
Number of shared co-authors 48
Sarah S Murray
University of California San Diego Health System
Career Start Year 2004
Number of shared co-authors 64
Sek Won Kong
Boston Children's Hospital, Seoul National University, Seoul National University Hospital
Career Start Year 2003
Number of shared co-authors 13
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 38
Fuli Yu
East China University of Science and Technology
Career Start Year 2002
Number of shared co-authors 39
Stacey Gabriel
Broad Institute of MIT and Harvard
Career Start Year 2001
Number of shared co-authors 102
Nancy F Hansen
National Human Genome Research Institute, National Institutes of Health
Career Start Year 2000
Number of shared co-authors 16
Eric Banks
Broad Institute of MIT and Harvard
Career Start Year 1999
Number of shared co-authors 28
Michael O Dorschner
University of Washington
Career Start Year 1997
Number of shared co-authors 19
Szabolcs Szelinger
College of American Pathologists
Career Start Year 1996
Number of shared co-authors 61
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Career Start Year 1993
Number of shared co-authors 60
Jean-Pierre A Kocher
Mayo Clinic
Career Start Year 1991
Number of shared co-authors 7
Kelly A Frazer
University of California, USA Institute for Genomic Medicine
Career Start Year 1967
Number of shared co-authors 35

Collaborators

Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 66
Joseph T Glessner
Co-authored papers 37
Struan F A Grant
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 34
Cecilia E Kim
Co-authored papers 30
Jonathan P Bradfield
Co-authored papers 23
Haitao Zhang
Co-authored papers 23
Mingyao Li
Co-authored papers 22
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Co-authored papers 21
Edward C Frackelton
Co-authored papers 20
Rosetta M Chiavacci
Co-authored papers 19
Patrick M A Sleiman
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 15
Kelly Thomas
Co-authored papers 13
Frederick G Otieno
Co-authored papers 12
James A Knowles
Co-authored papers 10
Frank D Mentch
Center for Applied Genomics (CAG), Children's Hospital of Philadelphia
Co-authored papers 10
Marcin Imielinski
Co-authored papers 10
Oleg V Evgrafov
Co-authored papers 9
Chunhua Weng
Columbia University Irving Medical Center
Co-authored papers 9
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 8
William J Mack
Co-authored papers 8
Gerard D Schellenberg
Co-authored papers 8
Edwin H Cook
Co-authored papers 8
John I Nurnberger
Stark Neurosciences Research Institute, Indiana University School of Medicine
Co-authored papers 7
Jonathan L Haines
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 7
Margaret A Pericak-Vance
Co-authored papers 6
James S Sutcliffe
Vanderbilt Genetics Institute, Vanderbilt University
Co-authored papers 6
Geraldine Dawson
Co-authored papers 6
Zhi Wei
Co-authored papers 6
Hilary Coon
Co-authored papers 6
Joseph Piven
Oregon Health & Science University
Co-authored papers 6
Release 1.2