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Genetics in Medicine Open
Scopus
ISSN 2949-7744 · Elsevier · 2.846 artikel di indeks
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Artikel Jurnal
Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients
Purpose: Children with neonatal intensive care unit (NICU) admission have higher rates of genetic disease, but it is unclear which patients should have genetic testing. Our goal was to identify clinical predictors associated with a pathogenic genetic result in NICU infants. Methods: This was a…
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Artikel Jurnal
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX
Purpose: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing. Here, we aimed to better understand both how splice altering…
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Artikel Jurnal
Genetic counselors’ perspectives and experiences with workplace genetic testing: Results of a national survey
Purpose: Workplace genetic testing (wGT) is a wellness benefit offered to employees, providing a new access point for genetic testing. Although genetic counseling is not typically required in wGT, genetic counselors (GCs) play a key role in integrating genetic testing into health care and may…
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Artikel Jurnal
Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations
Purpose: The US Centers for Disease Control and Prevention defined the Centers for Disease Control and Prevention Tier 1 (CDCT1) genomics applications, advocating mass screening for 3 hereditary conditions with significant public health impacts. On this premise, we investigated how genome…
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Artikel Jurnal
Artificial intelligence-assisted clinical exome sequencing: Insights and outcomes from 822 pediatric diagnoses
Purpose: This retrospective study examined the clinical and genetic characteristics of pediatric patients undergoing clinical exome sequencing (ES) and evaluated the performance of a commercially available artificial intelligence (AI) platform that was integrated into our analysis pipeline…
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Artikel Jurnal
Development of a comprehensive cardiovascular disease genetic risk assessment test
Purpose: Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and variant interpretation burden. To address these limitations, a comprehensive clinical genome CVD…
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Artikel Jurnal
Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humans
Purpose: We present here the technical feasibility of percutaneously retrieving cardiomyocytes (CMs) through the lumen of irrigated ablation catheters, with the aim of obtaining DNA of sufficient quality/quantity for allowing DNA amplification, screening, and derived genetic analysis. Methods…
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Artikel Jurnal
Impact of variants of uncertain significance on decision making about genetic testing for Hispanic males
Purpose: Underutilization of genetic testing among Hispanic males results in higher rates of variants of uncertain significance (VUS). We examined the impact of VUS on decision making and behavioral intentions. Methods: We conducted a nationwide survey of 807 US Hispanic males aged ≥40 in English…
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Artikel Jurnal
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease
Purpose: To assess the benefits of early enzyme replacement therapy (ERT) in patients with infantile-onset Pompe disease (IOPD). Methods: A retrospective chart review of 17 IOPD (7 cross-reactive immunologic material [CRIM]-negative and 10 CRIM positive) who initiated ERT (alglucosidase alfa) ≤4…
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Artikel Jurnal
Epigenetic age and neurodevelopmental outcomes in children born preterm
Purpose: The objective of this study was to identify predictors of epigenetic age and its association with neurodevelopmental outcomes in children born preterm. Methods: A prospective cohort of children born 24-to-32-weeks gestation, well characterized with clinical data, brain imaging, and…
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Artikel Jurnal
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants
Purpose: We developed a genome sequencing-based test (Rapid Targeted Analysis of the Genome for Infants [rTAG-I]) to minimize turnaround time while maximizing diagnostic yield and access to rapid sequencing for critically ill infants. We sought to create a system of predicting which infants would…
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Artikel Jurnal
CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Purpose: Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic variants, but further efforts are needed to develop LRS for applications…
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Artikel Jurnal
Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization
Purpose: Rapid advancements in information technology have greatly influenced clinicians’ engagement with patient data for health maintenance. The electronic health record often contains multiple ways to record risk factors and to identify patients at an elevated genetic risk for cancer. However…
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Artikel Jurnal
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system
Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations. The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP)…
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Artikel Jurnal
How does personal utility depend on clinical setting? Evidence from 3 cohorts
Purpose: Evidence of personal utility of genetic testing is critical to clinical care, funding, and policy decisions. We aimed to understand how patient-oriented values and preferences for genetic testing vary across clinical settings to inform the development of a personal utility index. Methods…
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Artikel Jurnal
Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure
Purpose: Genomic testing is expanding, yet disparities persist in result disclosure, particularly among diverse and bilingual populations. The Genomic Understanding, Information, and Awareness (GUÍA) digital tool was developed to enhance genomic results communication for parents of children…
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Artikel Jurnal
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases
Purpose: To evaluate the clinical utility of runs of homozygosity (ROH) in identifying the genetic causes of rare diseases in our patient population. Methods: All unrelated patients (N = 2787), presenting with neurodevelopmental disorders and/or congenital anomalies, who underwent chromosomal…
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Artikel Jurnal
ApplyPolygenicScore: An R package for applying polygenic risk score models
Purpose: A polygenic score (PGS) predicts an individual’s genetic predisposition to a complex trait. A PGS is created by estimating the relative contributions of multiple common variants to the overall trait, creating a polygenic risk model (PGM). The PGM is then applied by combining its weights…
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Artikel Jurnal
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
Purpose: Germline pathogenic variants in cancer predisposition genes are found in approximately 10% of all cancer cases. Although multigene panel testing is the current first-tier approach for detecting variants in these genes, it has limitations in identifying and characterizing copy-number…
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