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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the...
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Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China
Fragile X syndrome is the most common inherited cause of intellectual disability. Considering China’s low prevalence, distinct healthcare system,...
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Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
Carrier screening can identify people at risk of conceiving pregnancies affected with inherited genetic disorders or who have a genetic disorder with...
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Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders
BackgroundFounder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some...
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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
Next generation sequencing (NGS) can detect carrier status for rare recessive disorders, informing couples about their reproductive risk. The recent...
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
BackgroundPeople with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of...
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A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders
Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or...
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Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis
A large number of studies have reported that the prevalence of beta thalassemia carriers in India varies by ethnic groups. The objective of this...
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Societal implications of expanded universal carrier screening: a sco** review
Carrier screening aims to identify couples at risk of conceiving children with a recessive condition. Until recently, carrier screening was primarily...
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The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the...
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Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardless of race or ethnicity. In...
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Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review
Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but...
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Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples — an evaluation of the 86 genes of the ACMG ‘Tier 3’ panel
Carrier screening for autosomal recessive variants has become a cornerstone of community and public health genetics. While the first carrier...
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Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium
Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a...
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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier...
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Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients
Estrogen receptor-positive (ER+) breast cancer generally confers a more favorable prognosis than ER-negative cancer, however, a different picture is...
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Ethical considerations in gene selection for reproductive carrier screening
Genetic carrier screening for reproductive purposes has existed for half a century. It was originally offered to particular ethnic groups with a...
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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring...
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A pilot study on glutamate receptor and carrier gene variants and risk of childhood autism spectrum
Imbalanced glutamate signaling has been implicated in the development of autism spectrum disorder (ASD). This case-control study was to examine...
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A Global Perspective of Cancer Prevalence: The Causative Agent, the Environment, or the Genes?
Cancer is among the most leading causes of death worldwide, while breast and prostate cancers are the leading causes of cancers among females and...