Why don't we all use genomic testing?
作者信息
McNeill Alisdair
机构信息
Department of Neuroscience, The University of Sheffield, Sheffield, UK.
Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
出版信息
Eur J Hum Genet. 2023 Sep;31(9):971-972. doi: 10.1038/s41431-023-01446-1.
Abstract
摘要
相似文献
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Why don't we all use genomic testing?我们为什么不都使用基因检测呢？
Eur J Hum Genet. 2023 Sep;31(9):971-972. doi: 10.1038/s41431-023-01446-1.
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本文引用的文献
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.EMQN：遗传性心肌病和心律失常基因检测的建议。
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Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.HNRNPU 种系致病性变异与血液甲基组改变有关。
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Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia.澳大利亚针对综合征性和非综合征性智力残疾的资助基因组检测的接受情况。
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Episignature analysis of moderate effects and mosaics.中度效应和镶嵌体的 Episignature 分析。
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Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM).支持患者将遗传检测结果与高危亲属分享的干预措施：无荟萃分析的综合研究（SWiM）。
Eur J Hum Genet. 2023 Sep;31(9):988-1002. doi: 10.1038/s41431-023-01400-1. Epub 2023 Jun 21.
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BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.BRAT1 相关疾病：97 例患者的表型谱及表型-基因型相关性。
Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21.
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Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.探索CREBBP基因的基因型与表型之间的相关性：文献评论及一名具有非典型结局的额外患者的描述
Eur J Hum Genet. 2023 Sep;31(9):975-976. doi: 10.1038/s41431-023-01385-x. Epub 2023 May 29.
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Lynch syndrome: influence of additional susceptibility variants on cancer risk.林奇综合征：附加易感性变异对癌症风险的影响。
Eur J Hum Genet. 2023 Sep;31(9):1078-1082. doi: 10.1038/s41431-023-01367-z. Epub 2023 Apr 24.
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