Comprehensive Genomic Sequencing-Based Screening for Hearing Loss in the Neonatal Intensive Care Setting-Is It Time?
Sign Up to like & getrecommendations! Published in 2022 at "JAMA network open"
DOI: 10.1001/jamanetworkopen.2022.20992
Abstract: Zhu assessed the utility of combining expanded genomic sequencing with traditional physiological newborn hearing screening (NBHS) in the neonatal intensive care unit (NICU). The benefits associated with combining genetic and physiological screening, as illustrated by… read more here.
Keywords: intensive care; neonatal intensive; hearing loss; loss ... See more keywords
Performance of Afirma genomic sequencing classifier vs gene expression classifier in Bethesda category III thyroid nodules: An institutional experience
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostic Cytopathology"
DOI: 10.1002/dc.24765
Abstract: Afirma gene expression classifier (GEC) is an adjunct to thyroid fine needle aspiration shown to improve pre‐operative risk assessment and reduce unnecessary surgery of indeterminate thyroid nodules. Genomic sequencing classifier (GSC) is a newer version… read more here.
Keywords: thyroid nodules; genomic sequencing; gene expression; sequencing classifier ... See more keywords
Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1076
Abstract: Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited… read more here.
Keywords: genomic sequencing; genetic counselors; uncertainty; perceptions uncertainty ... See more keywords
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6153
Abstract: This study sought to evaluate the experiences of individuals who chose to participate in a study and receive prenatal genomic sequencing (pGS) for fetuses with congenital structural anomalies. read more here.
Keywords: individuals chose; information power; genomic sequencing; prenatal genomic ... See more keywords
Bioinformatics Approaches to Predict Drug Responses from Genomic Sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7493-1_14
Abstract: Fulfilling the promises of precision medicine will depend on our ability to create patient-specific treatment regimens. Therefore, being able to translate genomic sequencing into predicting how a patient will respond to a given drug is… read more here.
Keywords: genomic sequencing; sequencing data; bioinformatics approaches; approaches predict ... See more keywords
Multiplexed Non-barcoded Long-Read Sequencing and Assembling Genomes of Bacillus Strains in Error-Free Simulations
Sign Up to like & getrecommendations! Published in 2019 at "Current Microbiology"
DOI: 10.1007/s00284-019-01808-3
Abstract: The generation of genomic data from microorganisms has revolutionized our abilities to understand their biology, but it is still challenging to obtain complete genome sequences of microbes in an automated high-throughput and cost-effective manner. While… read more here.
Keywords: genomic sequencing; multiplexed non; long read; free simulations ... See more keywords
Genetic Counseling in the Era of Genomics: What’s all the Fuss about?
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Genetic Counseling"
DOI: 10.1007/s10897-018-0216-x
Abstract: As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic… read more here.
Keywords: genomic sequencing; genetic counselors; counseling; genetic counseling ... See more keywords
Mainstreaming informed consent for genomic sequencing: A call for action.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of cancer"
DOI: 10.1016/j.ejca.2021.02.029
Abstract: The wider availability of genomic sequencing, notably gene panels, in cancer care allows for personalised medicine or the tailoring of clinical management to the genetic characteristics of tumours. While the primary aim of mainstream genomic… read more here.
Keywords: informed consent; genomic sequencing; mainstreaming informed; consent genomic ... See more keywords
A curated gene list for reporting results of newborn genomic sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.193
Abstract: Purpose:Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the… read more here.
Keywords: list; genomic sequencing; curated gene; gene list ... See more keywords
Engagement and communication among participants in the ClinSeq Genomic Sequencing Study
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DOI: 10.1038/gim.2016.71
Abstract: Purpose:As clinical genome sequencing expand its reach, understanding how individuals engage with this process are of critical importance. In this study, we aimed to describe internal engagement and its correlates among a ClinSeq cohort of… read more here.
Keywords: engagement communication; genomic sequencing; study; engagement ... See more keywords
Making pretest genomic counseling optional: lessons from the RAVE study
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.240
Abstract: The successful integration of genomic medicine into clinical practice will require genetic professionals to reevaluate clinical standards that might have been appropriate when the numbers of individuals pursuing genomic sequencing were low, but may not… read more here.
Keywords: medicine; genomic sequencing; counseling; genetic counseling ... See more keywords