利用下一代测序技术进行孟德尔疾病基因检测的当前方案
C Di Resta, GB Pipitone, P Carrera… - 中国神经再生研究(英文版), 2021 - sjzsyj.com.cn
… sequencing approaches; including targeted, whole-exome … for wholegenome sequencing
as a first-tier genetic test. Genet Med … sequencing in a child with intractable inflammatory bowel …
as a first-tier genetic test. Genet Med … sequencing in a child with intractable inflammatory bowel …
儿童临床诊断不明呼吸系统疾病97 例基因二代测序结果分析
王峡， 代继宏， 田代印， 应林燕， 符州， 李莹 - 临床儿科杂志, 2022 - jcp.xinhuamed.com.cn
… Results A total of 97 children underwent NGS testing, all of … 测序和全外显子 组测序(whole
exome sequencing,WES)等二代测 序… sequencing as a cost-effective first-tier genetic diagnostic …
exome sequencing,WES)等二代测 序… sequencing as a cost-effective first-tier genetic diagnostic …
[PDF][PDF] 罕见病诊断的相关技术及发展
王远玭， 胡晓敏， 弓孟春， 凌超 - 科技导报, 2017 - kjdb.org
… The clinical utility of whole- exome se⁃ quencing in the context of rare diseases-the changing
… A prospective evaluation of wholeexome sequencing as a first-tier molecular test in infants …
… A prospective evaluation of wholeexome sequencing as a first-tier molecular test in infants …
遗传性耳聋分子诊断及梯级检测策略应用
曾焙枰， 许红恩， 毛璐， 汤文学 - 遗传, 2022 - chinagene.cn
… 集测序和全外显子组测序 (whole exome sequencing, WES)等[… ],甚至也会使用 全基因组测序
(whole genome sequencing, WGS), RNA-… Newborn screening of genetic mutations in common …
(whole genome sequencing, WGS), RNA-… Newborn screening of genetic mutations in common …
TRPV4 基因相关疾病的遗传学诊断与管理
胡旭昀， 郝婵娟 - 临床儿科杂志, 2023 - jcp.xinhuamed.com.cn
… Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic …
tests of whole exome sequencing and copy number variant sequencing increase the diagnosis …
tests of whole exome sequencing and copy number variant sequencing increase the diagnosis …
关于遗传基因检测中基因变异临床意义分级的建议.
李广 - Tianjin Medical Journal, 2021 - search.ebscohost.com
… Laboratory policies on reporting secondary findings in clinical whole exome sequencing:initial
uptake of the ACMG's recommendations[J]. Am J Med Genet A, 2014,164A(5):1328-1331. …
uptake of the ACMG's recommendations[J]. Am J Med Genet A, 2014,164A(5):1328-1331. …