Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
出版年份 2020 全文链接
标题
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-10-20
DOI
10.1038/s41436-020-00989-8
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。- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches
- (2020) Brent S. Pedersen et al. Genome Medicine
- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- Clinical application of next-generation sequencing to the practice of neurology
- (2019) Jessica Rexach et al. LANCET NEUROLOGY
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
- (2019) Melissa A. Gilbert et al. HUMAN MUTATION
- Strelka2: fast and accurate calling of germline and somatic variants
- (2018) Sangtae Kim et al. NATURE METHODS
- Alagille Syndrome
- (2018) Ellen Mitchell et al. Clinics in Liver Disease
- Indexcov: fast coverage quality control for whole-genome sequencing
- (2017) Brent S Pedersen et al. GigaScience
- Sequencing-based diagnostics for pediatric genetic diseases: progress and potential
- (2016) Ahmad N. Abou Tayoun et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
- (2015) Hui Yang et al. Nature Protocols
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
- (2014) Morad Ansari et al. JOURNAL OF MEDICAL GENETICS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
- (2012) Mingfu Zhu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome
- (2012) Minoru Tada et al. FEBS Journal
- Notch signaling in human development and disease
- (2012) Andrea L. Penton et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
- (2011) K Guegan et al. CLINICAL GENETICS
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- NOTCH2mutations in Alagille syndrome
- (2011) Binita Maya Kamath et al. JOURNAL OF MEDICAL GENETICS
- Utility of lymphoblastoid cell lines
- (2009) L. Sie et al. JOURNAL OF NEUROSCIENCE RESEARCH
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk 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