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Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing
BackgroundVery low-coverage (0.1 to 1×) whole genome sequencing (WGS) has become a promising and affordable approach to discover genomic variants of...
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Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
The release of 150,119 UK Biobank sequences represents an unprecedented opportunity as a reference panel to impute low-coverage whole-genome...
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
BackgroundExome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and...
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Private payer coverage policies for ApoE-e4 genetic testing
PurposeApoE-e4 has a well-established connection to late-onset Alzheimer disease (AD) and is available clinically. Yet, there have been no analyses...
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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
BackgroundDue to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed...
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Gene Coverage Count and Classification (GC3): a locus sequence coverage assessment tool using short-read whole genome sequencing data, and its application to identify and classify histidine-rich protein 2 and 3 deletions in Plasmodium falciparum
BackgroundThe ability of malaria rapid diagnostic tests (RDTs) to effectively detect active infections is being compromised by the presence of...
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare...
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“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance
Genetic testing can provide valuable information to mitigate personal disease risk, but the use of genetic results in life insurance underwriting is...
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Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
BackgroundHereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Despite its...
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Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendation (CADRe) framework proposes that key components of informed consent for...
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A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps...
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The expanding diagnostic toolbox for rare genetic diseases
Genomic technologies, such as targeted, exome and short-read genome sequencing approaches, have revolutionized the care of patients with rare genetic...
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The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation
Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic...
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Expanding access to genetic testing for pancreatic cancer
Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5–10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene....
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Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing
Fears of genetic discrimination in life insurance continue to deter some Australians from genetic testing. In July 2019, the life insurance industry...
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Medium-coverage DNA sequencing in the design of the genetic association study
DNA sequencing is a widely used tool in genetic association study. Sequencing cost remains a major concern in sequencing-based study, although the...
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Mucopenetrating Janus Nanoparticles For Field-Coverage Oral Cancer Chemoprevention
IntroductionOral squamous cell carcinoma (OSCC), is associated with high morbidity and mortality. Preemptive interventions have been postulated to...
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Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreatic cancer. This...
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Giving Voice to Social Values in Achieving Universal Health Coverage
Access to relevant and affordable health servicesHealth services is a significant component of social protectionSocial protection, in particular,...
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Global trends and themes in genetic counseling research
This article seeks to highlight the most recent trends and themes in genetic counseling that are of broad interest. A total of 3505 documents were...
