List of works - Gwênlyn Glusman

A Data-Rich Longitudinal Wellness Study for the Digital Age: Fixing a Broken Medical System Requires Data About Each Patient

scientific article published on July 2017

A Third Approach to Gene Prediction Suggests Thousands of Additional Human Transcribed Regions

article

A comparison of the human and chimpanzee olfactory receptor gene repertoires

scientific article published on February 2005

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family

article

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

scientific journal article

A third approach to gene prediction suggests thousands of additional human transcribed regions

scientific article

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

scientific article

A wellness study of 108 individuals using personal, dense, dynamic data clouds

scientific article published on 17 July 2017

Accurate and robust prediction of genetic relationship from whole-genome sequences

scientific article

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

scientific article

An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges

scientific article published in 2023

An enigmatic fourth runt domain gene in the fugu genome: ancestral gene loss versus accelerated evolution

scientific article

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

scientific article

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

scientific article

Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1

scientific article published on 01 January 2001

Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data Across 27 Tissue Types

Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data across 27 Tissue Types

scientific article published on 01 August 2020

Author Correction: Parent-of-origin-specific signatures of de novo mutations

scientific article published on 01 November 2018

BDQC: a general-purpose analytics tool for domain-blind validation of Big Data

Big biomedical data as the key resource for discovery science

scientific article published on 21 July 2015

Bioinformatics Strategies for Understanding Gene Expression in Human Pluripotent Cells

article

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science ⬇️

scientific article

Chromosomal haplotypes by genetic phasing of human families

scientific article

Clinical Data: Sources and Types, Regulatory Constraints, Applications

scientific article published on 09 May 2019

Clinical applications of sequencing take center stage ⬇️

scientific article published on March 28, 2013

Comparative genomics of the human and mouse T cell receptor loci

scientific article

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

scientific article published on 31 August 2015

Correction: Optimal Scaling of Digital Transcriptomes.

scientific article published on 8 January 2014

Crowdsourced direct-to-consumer genomic analysis of a family quartet

scientific article

Diagnostic perspectives in the epoch of next-generation sequencing

Differences between the genomes of lymphoblastoid cell lines and blood-derived samples

scientific article

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

scientific article published on 4 August 2014

Enhancing gene detection with computer generated intergenic regions

article

Evolutionary history of Tibetans inferred from whole-genome sequencing.

scientific article

Fast and simple comparison of semi-structured data, with emphasis on electronic health records

article

GESTALT: a workbench for automatic integration and visualization of large-scale genomic sequence analyses

scientific article published in May 2000

Genetic divergence of the rhesus macaque major histocompatibility complex

scientific article

Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden

scientific article

Genome Organization

Genome dynamics, evolution, and protein modeling in the olfactory receptor gene superfamily

scientific article

Genome sequence of Haloarcula marismortui: a halophilic archaeon from the Dead Sea

scientific article

Genomic and molecular characterization of preterm birth

article

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals

scientific article published on 7 January 2016

Genomic complexity of the variable region-containing chitin-binding proteins in amphioxus

scientific article

Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications

article

Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications

Genotype fingerprints enable fast and private comparison of genetic testing results for research and direct-to-consumer applications

Gut microbiome pattern reflects healthy ageing and predicts survival in humans

scientific article published on 18 February 2021

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

Human Gene-Centric Databases at the Weizmann Institute of Science: GeneCards, UDB, CroW 21 and HORDE

scientific article

Identification and characterization of coding single-nucleotide polymorphisms within a human olfactory receptor gene cluster

article

Identification of Organ-Enriched Protein Biomarkers of Acute Liver Injury by Targeted Quantitative Proteomics of Blood in Acetaminophen- and Carbon-Tetrachloride-Treated Mouse Models and Acetaminophen Overdose Patients

scientific article published on 30 August 2016

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

scientific article

Initial sequencing and comparative analysis of the mouse genome

scientific article

Interchromosomal segmental duplications explain the unusual structure of PRSS3, the gene for an inhibitor-resistant trypsinogen.

scientific article

KLK31P is a novel androgen regulated and transcribed pseudogene of kallikreins that is expressed at lower levels in prostate cancer cells than in normal prostate cells

scientific article published on June 2006

Kaviar: an accessible system for testing SNV novelty

scientific article

Leishmania donovani: Characterization of a 38-kDa membrane protein that cross-reacts with the mammalian G-protein transducin

scientific article published on 01 May 1991

Low budget analysis of Direct-To-Consumer genomic testing familial data

scientific article (publication date: 2012)

Low budget analysis of Direct-To-Consumer genomic testing familial data

article published in 2012

Low-pass sequencing for microbial comparative genomics

scientific article

Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

scientific article published on 18 December 2017

Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease

scientific article published on 01 November 2019

Meta-analysis of gene expression in human pancreatic islets after in vitro expansion

scientific article

Mining “junk” DNA to find hidden transcriptional gems

Mutations in NOTCH1 cause Adams-Oliver syndrome

scientific article (publication date: 4 September 2014)

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

scientific article published on 2 November 2014

NormExpression: An R Package to Normalize Gene Expression Data Using Evaluated Methods

article

Novel metrics for quantifying bacterial genome composition skews

article

Novel metrics for quantifying bacterial genome composition skews.

scientific article published on 11 July 2018

Opportunities and Challenges in Interpreting and Sharing Personal Genomes

scientific article published on 25 August 2019

Optimal scaling of digital transcriptomes

scientific article

Organization and evolution of olfactory receptor genes on human chromosome 11

scientific article

Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease

scientific article

P4 medicine: how systems medicine will transform the healthcare sector and society

scientific article

Parent-of-origin-specific signatures of de novo mutations

scientific article published on 20 June 2016

Personalized nutrition through big data.

scientific article

Phylogenesis and regulated expression of the RUNT domain transcription factors RUNX1 and RUNX3.

scientific article published in March 2003

Position-specific codon conservation in hypervariable gene families

article

Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations

scientific article

Primate evolution of an olfactory receptor cluster: diversification by gene conversion and recent emergence of pseudogenes

scientific article published in October 1999

Progress toward a universal biomedical data translator

publication published in 2022

Rare variants in neuronal excitability genes influence risk for bipolar disorder

scientific article

Realistic artificial DNA sequences as negative controls for computational genomics

scientific article

Relationship estimation from whole-genome sequence data

scientific article

Reply to "Precision medicine in the clouds"

scientific article published on 01 August 2018

Reproducible big data science: A case study in continuous FAIRness

scholarly article published 27 February 2018

Reproducible big data science: A case study in continuous FAIRness

scientific article published on 11 April 2019

Scale-invariant geometric data analysis (SIGDA) provides robust, detailed visualizations of human ancestry specific to individuals and populations

scholarly article published 3 October 2018

Self replication and chemical selection in primordial mutually catalytic sets

Self-Replication and Evolution in Primordial Mutually Catalytic Sets

Sequence analysis in the olfactory receptor gene cluster on human chromosome 17: recombinatorial events affecting receptor diversity

scientific article

Sequence, structure, and evolution of a complete human olfactory receptor gene cluster

scientific article

Sex, obesity, diabetes, and exposure to particulate matter among patients with severe asthma: Scientific insights from a comparative analysis of open clinical data sources during a five-day hackathon

scientific article published on 30 October 2019

Structural and genetic diversity of group B streptococcus capsular polysaccharides

scientific article

Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease

scientific article

T1DBase, a community web-based resource for type 1 diabetes research

scientific article

Taking Systems Medicine to Heart.

scientific article published in April 2018

The RUNX3 gene--sequence, structure and regulated expression

scientific article

The evolution of vertebrate Toll-like receptors

scientific article

The genomic structure of human olfactory receptor genes

scientific article

The human olfactory subgenome: from sequence to structure and evolution

scientific article published on 01 January 2001

The olfactory receptor gene superfamily: data mining, classification, and nomenclature

scientific article

Ultrafast Comparison of Personal Genomes via Precomputed Genome Fingerprints

scientific article published on 26 September 2017

Visualizing large-scale genomic sequences

scientific article published on 01 July 2001

Whole genome sequence and comparative analysis of Borrelia burgdorferi MM1

Whole genome sequence and comparative analysis of Borrelia burgdorferi MM1.

scientific article

Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes

scientific article

Whole-genome haplotyping approaches and genomic medicine

scientific article

Whole-genome sequencing of the world's oldest people

scientific article

Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.

scientific article published on September 2015

List of works by Gwênlyn Glusman

A Data-Rich Longitudinal Wellness Study for the Digital Age: Fixing a Broken Medical System Requires Data About Each Patient

A Third Approach to Gene Prediction Suggests Thousands of Additional Human Transcribed Regions

A comparison of the human and chimpanzee olfactory receptor gene repertoires

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

A third approach to gene prediction suggests thousands of additional human transcribed regions

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

A wellness study of 108 individuals using personal, dense, dynamic data clouds

Accurate and robust prediction of genetic relationship from whole-genome sequences

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges

An enigmatic fourth runt domain gene in the fugu genome: ancestral gene loss versus accelerated evolution

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

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1

Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data Across 27 Tissue Types

Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data across 27 Tissue Types

Author Correction: Parent-of-origin-specific signatures of de novo mutations

BDQC: a general-purpose analytics tool for domain-blind validation of Big Data

Big biomedical data as the key resource for discovery science

Bioinformatics Strategies for Understanding Gene Expression in Human Pluripotent Cells

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science ⬇️

Chromosomal haplotypes by genetic phasing of human families

Clinical Data: Sources and Types, Regulatory Constraints, Applications

Clinical applications of sequencing take center stage ⬇️

Comparative genomics of the human and mouse T cell receptor loci

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Correction: Optimal Scaling of Digital Transcriptomes.

Crowdsourced direct-to-consumer genomic analysis of a family quartet

Diagnostic perspectives in the epoch of next-generation sequencing

Differences between the genomes of lymphoblastoid cell lines and blood-derived samples

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Enhancing gene detection with computer generated intergenic regions

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Fast and simple comparison of semi-structured data, with emphasis on electronic health records

GESTALT: a workbench for automatic integration and visualization of large-scale genomic sequence analyses

Genetic divergence of the rhesus macaque major histocompatibility complex

Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden

Genome Organization

Genome dynamics, evolution, and protein modeling in the olfactory receptor gene superfamily

Genome sequence of Haloarcula marismortui: a halophilic archaeon from the Dead Sea

Genomic and molecular characterization of preterm birth

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals

Genomic complexity of the variable region-containing chitin-binding proteins in amphioxus

Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications

Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications

Genotype fingerprints enable fast and private comparison of genetic testing results for research and direct-to-consumer applications

Gut microbiome pattern reflects healthy ageing and predicts survival in humans

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Human Gene-Centric Databases at the Weizmann Institute of Science: GeneCards, UDB, CroW 21 and HORDE

Identification and characterization of coding single-nucleotide polymorphisms within a human olfactory receptor gene cluster

Identification of Organ-Enriched Protein Biomarkers of Acute Liver Injury by Targeted Quantitative Proteomics of Blood in Acetaminophen- and Carbon-Tetrachloride-Treated Mouse Models and Acetaminophen Overdose Patients

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Initial sequencing and comparative analysis of the mouse genome

Interchromosomal segmental duplications explain the unusual structure of PRSS3, the gene for an inhibitor-resistant trypsinogen.

KLK31P is a novel androgen regulated and transcribed pseudogene of kallikreins that is expressed at lower levels in prostate cancer cells than in normal prostate cells

Kaviar: an accessible system for testing SNV novelty

Leishmania donovani: Characterization of a 38-kDa membrane protein that cross-reacts with the mammalian G-protein transducin

Low budget analysis of Direct-To-Consumer genomic testing familial data

Low budget analysis of Direct-To-Consumer genomic testing familial data

Low-pass sequencing for microbial comparative genomics

Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease

Meta-analysis of gene expression in human pancreatic islets after in vitro expansion

Mining “junk” DNA to find hidden transcriptional gems

Mutations in NOTCH1 cause Adams-Oliver syndrome

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

NormExpression: An R Package to Normalize Gene Expression Data Using Evaluated Methods

Novel metrics for quantifying bacterial genome composition skews

Novel metrics for quantifying bacterial genome composition skews.

Opportunities and Challenges in Interpreting and Sharing Personal Genomes

Optimal scaling of digital transcriptomes

Organization and evolution of olfactory receptor genes on human chromosome 11

Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease

P4 medicine: how systems medicine will transform the healthcare sector and society

Parent-of-origin-specific signatures of de novo mutations

Personalized nutrition through big data.

Phylogenesis and regulated expression of the RUNT domain transcription factors RUNX1 and RUNX3.

Position-specific codon conservation in hypervariable gene families