Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity
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Title
Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity
Authors
Keywords
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Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-04-07
DOI
10.1038/s41598-017-01005-x
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Note: Only part of the references are listed.- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
- (2016) Glen R. Monroe et al. GENETICS IN MEDICINE
- Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
- (2016) Katherine L. Helbig et al. GENETICS IN MEDICINE
- A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- (2016) Zornitza Stark et al. GENETICS IN MEDICINE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comparing variant calling algorithms for target-exon sequencing in a large sample
- (2015) Yancy Lo et al. BMC BIOINFORMATICS
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
- (2015) Stefan H. Lelieveld et al. HUMAN MUTATION
- Insights from exome sequencing for endocrine disorders
- (2015) Christiaan de Bruin et al. Nature Reviews Endocrinology
- New insights into the performance of human whole-exome capture platforms
- (2015) J. Meienberg et al. NUCLEIC ACIDS RESEARCH
- Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
- (2015) Aziz Belkadi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Variant detection sensitivity and biases in whole genome and exome sequencing
- (2014) Alison M Meynert et al. BMC BIOINFORMATICS
- Performance comparison of four exome capture systems for deep sequencing
- (2014) Chandra Sekhar Chilamakuri et al. BMC GENOMICS
- Exome sequence read depth methods for identifying copy number changes
- (2014) L. Kadalayil et al. BRIEFINGS IN BIOINFORMATICS
- Genome-Scale Sequencing in Clinical Care
- (2014) Jonathan S. Berg JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Prioritization of neurodevelopmental disease genes by discovery of new mutations
- (2014) Alexander Hoischen et al. NATURE NEUROSCIENCE
- Sequencing depth and coverage: key considerations in genomic analyses
- (2014) David Sims et al. NATURE REVIEWS GENETICS
- Disentangling the heterogeneity of autism spectrum disorder through genetic findings
- (2014) Shafali S. Jeste et al. Nature Reviews Neurology
- Autism Spectrum Disorder Genetics
- (2014) Michael E. Talkowski et al. HARVARD REVIEW OF PSYCHIATRY
- Deep Whole-Genome Sequencing of 100 Southeast Asian Malays
- (2013) Lai-Ping Wong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GWASTools: an R/Bioconductor package for quality control and analysis of genome-wide association studies
- (2012) S. M. Gogarten et al. BIOINFORMATICS
- Disease gene identification strategies for exome sequencing
- (2012) Christian Gilissen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Copy number variation detection and genotyping from exome sequence data
- (2012) N. Krumm et al. GENOME RESEARCH
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
- (2012) Mary J Emond et al. NATURE GENETICS
- TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
- (2012) Catherine Boileau et al. NATURE GENETICS
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- Fast Computation and Applications of Genome Mappability
- (2012) Thomas Derrien et al. PLoS One
- A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
- (2011) H. Li BIOINFORMATICS
- Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms
- (2011) Ellen S. Regalado et al. CIRCULATION RESEARCH
- Performance comparison of exome DNA sequencing technologies
- (2011) Michael J Clark et al. NATURE BIOTECHNOLOGY
- Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
- (2011) Tyler Mark Pierson et al. PLoS Genetics
- Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries
- (2011) Daniel Aird et al. GENOME BIOLOGY
- Comparison of solution-based exome capture methods for next generation sequencing
- (2011) Anna-Maija Sulonen et al. GENOME BIOLOGY
- Comprehensive comparison of three commercial human whole-exome capture platforms
- (2011) Asan et al. GENOME BIOLOGY
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Uncovering the roles of rare variants in common disease through whole-genome sequencing
- (2010) Elizabeth T. Cirulli et al. NATURE REVIEWS GENETICS
- The Sequence Read Archive
- (2010) R. Leinonen et al. NUCLEIC ACIDS RESEARCH
- Annotating the human genome with Disease Ontology
- (2009) John D Osborne et al. BMC GENOMICS
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- NCBI Reference Sequences: current status, policy and new initiatives
- (2008) K. D. Pruitt et al. NUCLEIC ACIDS RESEARCH
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