Jacqueline A. Odgis
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View article: Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study
Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study Open
Objectives To implementation an automated multi-institutional pipeline that delivers breast-cancer risk integrated with polygenic risk scores, monogenic variants, family history, and clinical factors, emphasizing operational challenges and…
View article: Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study
Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study Open
Objective To develop and implement a pipeline for integrated breast cancer risk assessment using the BOADICEA model within the eMERGE study, incorporating polygenic risk scores (PRS), monogenic variants, family history, and clinical factor…
View article: Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study Open
Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if t…
View article: Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure
Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure Open
View article: P588: Comparison of high polygenic risk score for hypercholesterolemia and familial hypercholesterolemia risk in the eMERGE IV study
P588: Comparison of high polygenic risk score for hypercholesterolemia and familial hypercholesterolemia risk in the eMERGE IV study Open
View article: Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders Open
View article: Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population Open
View article: Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program Open
View article: The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families Open
Background Digital solutions are needed to support rapid increases in the application of genetic and genomic tests (GT) in diverse clinical settings and patient populations. We developed GUÍA, a bi-lingual web-based platform that facilitat…
View article: Identification of copy number variants with genome sequencing: Clinical experiences from the <scp>NYCKidSeq</scp> program
Identification of copy number variants with genome sequencing: Clinical experiences from the <span>NYCKidSeq</span> program Open
Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first‐tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs…
View article: Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients Open
View article: The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing Open
View article: Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients Open
Purpose Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditio…
View article: P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial*
P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial* Open
View article: P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations*
P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations* Open
View article: Detection of mosaic variants using genome sequencing in a large pediatric cohort
Detection of mosaic variants using genome sequencing in a large pediatric cohort Open
The increased use of next‐generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome seque…
View article: eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing
eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing Open
View article: GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis Open
View article: Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
View article: “Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results
“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results Open
View article: Hope versus reality: Parent expectations of genomic testing
Hope versus reality: Parent expectations of genomic testing Open
View article: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
View article: A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research
A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research Open
The descriptor ‘usual care’ refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research. Often one arm in a trial represents usual care in comparison with…
View article: GenomeDiver: A platform for phenotype-guided medical genomic diagnosis
GenomeDiver: A platform for phenotype-guided medical genomic diagnosis Open
Purpose Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient’s phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating t…
View article: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
BackgroundIncreasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populat…
View article: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented popula…
View article: Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank Open
Background Pathogenic variants in BRCA1 and BRCA2 ( BRCA1/2 ) lead to increased risk of breast, ovarian, and other cancers, but most variant-positive individuals in the general population are unaware of their risk, and little is known abou…
View article: Exome Sequencing Reveals a High Prevalence of<i>BRCA1</i>and<i>BRCA2</i>Founder Variants in a Diverse Population-Based Biobank
Exome Sequencing Reveals a High Prevalence of<i>BRCA1</i>and<i>BRCA2</i>Founder Variants in a Diverse Population-Based Biobank Open
Pathogenic variants in BRCA1 and BRCA2 ( BRCA1/2 ) lead to increased risk of breast, ovarian, and other cancers, but most variant positive individuals in the general population are unaware of their risk, and little is known about the preva…
View article: Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system
Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system Open
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a geneti…
View article: Author response: Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system
Author response: Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system Open
Article Figures and data Abstract eLife digest Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract Achieving confidence in the c…