Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices [0.03%]
BRCA1和BRCA2的临床检测：技术实践的世界快照
Amanda Ewart Toland,Andrea Forman,Fergus J Couch et al.
Amanda Ewart Toland et al.
Clinical testing of BRCA1 and BRCA2 began over 20 years ago. With the expiration and overturning of the BRCA patents, limitations on which laboratories could offer commercial testing were lifted. These legal changes occurred approximately t...
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants [0.03%]
NSIGHT1随机对照试验：全基因组快速序列测定在重症婴儿病原学诊断中的应用
Josh E Petrikin,Julie A Cakici,Michelle M Clark et al.
Josh E Petrikin et al.
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late ...
Denise Anderson,Timo Lassmann
Denise Anderson
Next generation sequencing is a standard tool used in clinical diagnostics. In Mendelian diseases the challenge is to discover the single etiological variant among thousands of benign or functionally unrelated variants. After calling varian...
Whole-genome transcriptomic insights into protective molecular mechanisms in metabolically healthy obese African Americans [0.03%]
代谢健康型肥胖非裔美国人的全基因组转录组学对保护性分子机制的新见解
Amadou Gaye,Ayo P Doumatey,Sharon K Davis et al.
Amadou Gaye et al.
Several clinical guidelines have been proposed to distinguish metabolically healthy obesity (MHO) from other subgroups of obesity but the molecular mechanisms by which MHO individuals remain metabolically healthy despite having a high fat m...
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion [0.03%]
染色体基因组识别及长读单分子实时（SMRT）测序在Bardet-Biedl综合征9型（BBS9）缺失中的应用
Jennifer Reiner,Laura Pisani,Wanqiong Qiao et al.
Jennifer Reiner et al.
Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 2...
Case Reports
NPJ genomic medicine. 2018 Jan 22:3:3. DOI:10.1038/s41525-017-0042-3 2018
A robust targeted sequencing approach for low input and variable quality DNA from clinical samples [0.03%]
一种稳健的目标测序方法，用于临床样本的低输入和质量可变的DNA
Austin P So,Anna Vilborg,Yosr Bouhlal et al.
Austin P So et al.
Next-generation deep sequencing of gene panels is being adopted as a diagnostic test to identify actionable mutations in cancer patient samples. However, clinical samples, such as formalin-fixed, paraffin-embedded specimens, frequently prov...
Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival [0.03%]
利用保守性和癌症特异性筛选非编码元件中的泛癌突变并揭示其与表达和生存的关系
Henrik Hornshøj,Morten Muhlig Nielsen,Nicholas A Sinnott-Armstrong et al.
Henrik Hornshøj et al.
Cancer develops by accumulation of somatic driver mutations, which impact cellular function. Mutations in non-coding regulatory regions can now be studied genome-wide and further characterized by correlation with gene expression and clinica...
Erratum: Preparing for genomic medicine: a real world demonstration of health system change [0.03%]
遗传医学的来临：一场关于卫生系统改革的现实演示（刊载错误）
Clara L Gaff,Ingrid M Winship,Susan M Forrest et al.
Clara L Gaff et al.
[This corrects the article DOI: 10.1038/s41525-017-0017-4.].
Published Erratum
NPJ genomic medicine. 2017 Oct 5:2:31. DOI:10.1038/s41525-017-0028-1 2017
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences [0.03%]
更正：Constellation：一种快速自动分配高多态性药物基因CYP2D6的表型的工具以全基因组序列为基础
Greyson P Twist,Andrea Gaedigk,Neil A Miller et al.
Greyson P Twist et al.
[This corrects the article DOI: 10.1038/npjgenmed.2015.7.].
Published Erratum
NPJ genomic medicine. 2017 Jan 11:2:16039. DOI:10.1038/npjgenmed.2016.39 2017
Erratum: A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype [0.03%]
图论：21q22.11染色体上2.78 Mb的新发重复使候选基因部分涉及21三体综合征表型
James D Weisfeld-Adams,Amanda K Tkachuk,Kenneth N Maclean et al.
James D Weisfeld-Adams et al.
[This corrects the article DOI: 10.1038/npjgenmed.2016.3.].
Published Erratum
NPJ genomic medicine. 2017 Aug 25:2:17001. DOI:10.1038/npjgenmed.2017.1 2017