Achieving high-sensitivity for clinical applications using augmented exome sequencing
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Achieving high-sensitivity for clinical applications using augmented exome sequencing
Authors
Keywords
Whole Genome Sequencing, Coverage Depth, Whole Exome Sequencing, Whole Genome Sequencing Data, Exome Capture
Journal
Genome Medicine
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-07-15
DOI
10.1186/s13073-015-0197-4
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
- (2015) Nazneen Aziz et al. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
- Variant detection sensitivity and biases in whole genome and exome sequencing
- (2014) Alison M Meynert et al. BMC BIOINFORMATICS
- Comparison of somatic mutation calling methods in amplicon and whole exome sequence data
- (2014) Huilei Xu et al. BMC GENOMICS
- Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)
- (2014) Sebastian Fröhler et al. BMC Medical Genetics
- Analytical validation of whole exome and whole genome sequencing for clinical applications
- (2014) Michael D Linderman et al. BMC Medical Genomics
- Clinical Exome Performance for Reporting Secondary Genetic Findings
- (2014) J. Y. Park et al. CLINICAL CHEMISTRY
- Clinical Interpretation and Implications of Whole-Genome Sequencing
- (2014) Frederick E. Dewey et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data
- (2014) John G. Cleary et al. JOURNAL OF COMPUTATIONAL BIOLOGY
- 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
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Accurate de novo and transmitted indel detection in exome-capture data using microassembly
- (2014) Giuseppe Narzisi et al. NATURE METHODS
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Quantifying single nucleotide variant detection sensitivity in exome sequencing
- (2013) Alison M Meynert et al. BMC BIOINFORMATICS
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
- (2013) Kornelia Neveling et al. HUMAN MUTATION
- Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
- (2013) Garrett M Frampton et al. NATURE BIOTECHNOLOGY
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Dynamic Database of Microarray-Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds
- (2013) Zhenya Tang et al. G3-Genes Genomes Genetics
- Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
- (2013) James R Lupski et al. Genome Medicine
- EXCAVATOR: detecting copy number variants from whole-exome sequencing data
- (2013) Alberto Magi et al. GENOME BIOLOGY
- Brief Report: Whole-Exome Sequencing Revealing SomaticNLRP3Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
- (2013) Ebun Omoyinmi et al. Arthritis & Rheumatology
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pharmacogenomics Knowledge for Personalized Medicine
- (2012) M Whirl-Carrillo et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Genome sequencing and cancer
- (2012) Elaine R Mardis CURRENT OPINION IN GENETICS & DEVELOPMENT
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
- (2012) William A. Gahl et al. GENETICS IN MEDICINE
- Copy number variation detection and genotyping from exome sequence data
- (2012) N. Krumm et al. GENOME RESEARCH
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Assuring the quality of next-generation sequencing in clinical laboratory practice
- (2012) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
- (2012) Wendy S. Rubinstein et al. NUCLEIC ACIDS RESEARCH
- Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
- (2012) Kristin K. McDonald et al. PLoS One
- Evaluation of a Transposase Protocol for Rapid Generation of Shotgun High-Throughput Sequencing Libraries from Nanogram Quantities of DNA
- (2011) Rachel Marine et al. APPLIED AND ENVIRONMENTAL MICROBIOLOGY
- A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
- (2011) Joanna Amberger et al. HUMAN MUTATION
- Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
- (2011) Alistair T Pagnamenta et al. JOURNAL OF HUMAN GENETICS
- Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
- (2011) Katie Snape et al. NATURE GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- Modernizing Reference Genome Assemblies
- (2011) Deanna M. Church et al. PLOS BIOLOGY
- Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
- (2011) Matthew N Bainbridge et al. GENOME BIOLOGY
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now