List of works - Matthew S Lebo

"Big Data" Gets Personal

scientific article

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

scientific article published in October 2017

A GC-wave correction algorithm that improves the analytical performance of aCGH.

scientific article published on 23 August 2012

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

article

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

scientific article published on 03 January 2019

A curated gene list for reporting results of newborn genomic sequencing.

scientific article published on 12 January 2017

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

scientific article published on 26 September 2013

A systematic approach to assessing the clinical significance of genetic variants.

scientific article

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

scientific article

American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

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

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

scientific article published on 27 June 2019

Automated typing of red blood cell and platelet antigens from whole exome sequences

scientific article published on 08 August 2019

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

scientific article published on 17 May 2018

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

scientific article published on 23 October 2020

Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

scientific article published on 27 February 2016

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

scientific article published in April 2015

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

scientific article

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

scientific article published on 16 November 2017

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

scientific article published on 31 May 2019

Correction: Variant classification changes over time in BRCA1 and BRCA2

scientific article published on 01 October 2019

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

scientific article published on 20 July 2017

Design and Reporting Considerations for Genetic Screening Tests

scientific article published on 22 February 2020

Designing algorithms for determining significance of DNA missense changes

scientific article published on January 2014

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories

scientific article published on 31 December 2018

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

scientific article

Development of a clinical polygenic risk score assay and reporting workflow

scientific article published on 18 April 2022

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

scientific article published on December 2016

Dynamic, mating-induced gene expression changes in female head and brain tissues of Drosophila melanogaster

scientific article

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

scientific article published on 26 October 2017

Ecdysone receptor acts in fruitless- expressing neurons to mediate drosophila courtship behaviors

scientific article published on 30 July 2009

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

scientific article published on 4 May 2017

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

scientific article published on 07 September 2018

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

scientific article published on 27 February 2020

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

scientific article

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets

scientific article published on 24 June 2019

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

scientific article published in May 2021

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.

scientific article published on 20 January 2016

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

scientific article

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

scientific article published on 18 January 2017

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

scientific article published on 26 May 2016

New molecular genetic tests in the diagnosis of heart disease

scientific article published on 14 January 2014

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

scientific article published on 16 December 2015

Pathology informatics fellowship training: Focus on molecular pathology

scientific article

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on 2 June 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on July 2016

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

scientific article published on 01 April 2019

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

scientific article published on 20 August 2020

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults

scientific article published on 11 November 2019

Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

article by Jaclyn B Murry et al published August 2018 in Cold Spring Harbor molecular case studies

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

scientific article published on 22 January 2015

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

scientific article

Somatic, germline and sex hierarchy regulated gene expression during Drosophila metamorphosis

scientific article

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

scientific article

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype

scientific article published on 08 October 2018

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

scientific article published on 6 February 2014

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

scientific article

Variant classification changes over time in BRCA1 and BRCA2

scientific article published on 11 April 2019

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

scientific article

List of works by Matthew S Lebo

"Big Data" Gets Personal

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

A GC-wave correction algorithm that improves the analytical performance of aCGH.

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

A curated gene list for reporting results of newborn genomic sequencing.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

A systematic approach to assessing the clinical significance of genetic variants.

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

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

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

Automated typing of red blood cell and platelet antigens from whole exome sequences

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

Correction: Variant classification changes over time in BRCA1 and BRCA2

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Design and Reporting Considerations for Genetic Screening Tests

Designing algorithms for determining significance of DNA missense changes

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

Development of a clinical polygenic risk score assay and reporting workflow

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Dynamic, mating-induced gene expression changes in female head and brain tissues of Drosophila melanogaster

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Ecdysone receptor acts in fruitless- expressing neurons to mediate drosophila courtship behaviors

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

New molecular genetic tests in the diagnosis of heart disease

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Pathology informatics fellowship training: Focus on molecular pathology

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults

Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

Somatic, germline and sex hierarchy regulated gene expression during Drosophila metamorphosis

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Variant classification changes over time in BRCA1 and BRCA2

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data