Candice R. Finnila
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View article: Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study Open
View article: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study Open
View article: When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research
When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research Open
Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions b…
View article: P362: Long-read genome sequencing to diagnose rare disease in a state-funded study
P362: Long-read genome sequencing to diagnose rare disease in a state-funded study Open
View article: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Open
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular diagnostic y…
View article: A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants Open
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive…
View article: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders Open
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can increase molecular…
View article: Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium
Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium Open
View article: P508: Medically-actionable disease risk variants in a diverse population
P508: Medically-actionable disease risk variants in a diverse population Open
The Alabama Genomic Health Initiative (AGHI) is a state-funded, IRB-approved study that since 2017 has pursued the goals of providing access to genomic technologies to a diverse population and exploring the utility and impact of population…
View article: The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care Open
Costs of implementing genomic testing innovations extend beyond the cost of sequencing, affecting personnel and infrastructure for which little data are available. We developed a time and motion (T&M) study within the Clinical Sequencing E…
View article: Table of Contents
Table of Contents Open
View article: Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit Open
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants wit…
View article: Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study Open
Our study emphasizes the need for clinicians to provide accurate and comprehensible information to individuals from diverse populations after genetic testing.
View article: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing Open
View article: 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care Open
OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology e…
View article: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing Open
Purpose Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we anal…
View article: P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative*
P392: Genomic medicine and primary care: The Alabama Genomic Health Initiative* Open
View article: Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium
Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium Open
View article: Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting Open
To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (N…
View article: eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative
eP494: Integration of genomics into primary care via the Alabama Genomic Health Initiative Open
View article: eP425: Parental impact of genome sequencing during the neonatal period
eP425: Parental impact of genome sequencing during the neonatal period Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized infants
Genome sequencing as a first-line diagnostic test for hospitalized infants Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized newborns
Genome sequencing as a first-line diagnostic test for hospitalized newborns Open
Purpose SouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and…
View article: The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life Open
Background: The desire of parents to obtain a genetic diagnosis for their child with intellectual disability and associated symptoms has long been framed as a diagnostic odyssey, an arduous and sometimes perilous journey focused on …
View article: A state-based approach to genomics for rare disease and population screening
A state-based approach to genomics for rare disease and population screening Open
View article: Participant Engagement in Translational Genomics Research: Respect for Persons—and Then Some
Participant Engagement in Translational Genomics Research: Respect for Persons—and Then Some Open
The expansion of both formal and informal frameworks of “engaged” research in translational research settings raises emerging and substantial normative concerns. In this article, we draw on findings from a focus group study with members of…
View article: Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons Open
View article: Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures Open
View article: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study Open
View article: Genomic sequencing identifies secondary findings in a cohort of parent study participants
Genomic sequencing identifies secondary findings in a cohort of parent study participants Open