Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation
出版年份 2016 全文链接
标题
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 19, Issue 5, Pages 496-504
出版商
Springer Nature
发表日期
2016-09-22
DOI
10.1038/gim.2016.134
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。- Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation
- (2015) Ahmad N. Abou Tayoun et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- A New Initiative on Precision Medicine
- (2015) Francis S. Collins et al. NEW ENGLAND JOURNAL OF MEDICINE
- Effect of predicted protein-truncating genetic variants on the human transcriptome
- (2015) M. A. Rivas et al. SCIENCE
- Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis
- (2015) Theodore G. Drivas et al. Science Translational Medicine
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Interpretation and Implications of Whole-Genome Sequencing
- (2014) Frederick E. Dewey et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Truncating Variants in the Majority of the Cytoplasmic Domain of PCDH15 Are Unlikely to Cause Usher Syndrome 1F
- (2014) Cynthia Perreault-Micale et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)
- (2014) Deepa Selvi Rani et al. PLoS One
- XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
- (2013) Amélie Piton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A systematic approach to assessing the clinical significance of genetic variants
- (2013) H Duzkale et al. CLINICAL GENETICS
- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Pfam: the protein families database
- (2013) Robert D. Finn et al. NUCLEIC ACIDS RESEARCH
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
- (2008) Zubair M. Ahmed et al. HUMAN GENETICS
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