The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
出版年份 2015 全文链接
标题
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 18, Issue 1, Pages 20-24
出版商
Springer Nature
发表日期
2015-04-02
DOI
10.1038/gim.2015.31
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Annotating DNA Variants Is the Next Major Goal for Human Genetics
- (2014) Garry R. Cutting AMERICAN JOURNAL OF HUMAN GENETICS
- Refining the structure and content of clinical genomic reports
- (2014) Michael O. Dorschner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Clinical Interpretation and Implications of Whole-Genome Sequencing
- (2014) Frederick E. Dewey et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- SDS, a structural disruption score for assessment of missense variant deleteriousness
- (2014) Thanawadee Preeprem et al. Frontiers in Genetics
- Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
- (2013) Mireille Claustres et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes
- (2013) Brian H. Shirts et al. GENETICS IN MEDICINE
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Comparison of Programs for in silico Assessment of Missense Substitutions
- (2011) Sean V. Tavtigian HUMAN MUTATION
- ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
- (2011) Amanda B. Spurdle et al. HUMAN MUTATION
- Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
- (2011) Stephanie Hicks et al. HUMAN MUTATION
- The Clinical Significance of Unknown Sequence Variants in BRCA Genes
- (2010) Valentina Calò et al. Cancers
- Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
- (2009) Karen D Tsuchiya et al. GENETICS IN MEDICINE
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
- A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2
- (2007) Melissa Yana Frederic et al. HUMAN MUTATION
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started