标题
DIAMUND: Direct Comparison of Genomes to Detect Mutations
作者
关键词
-
出版物
HUMAN MUTATION
Volume 35, Issue 3, Pages 283-288
出版商
Wiley
发表日期
2013-12-25
DOI
10.1002/humu.22503
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。- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Rare variant detection using family-based sequencing analysis
- (2013) G. Peng et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
- (2012) Christopher T. Saunders et al. BIOINFORMATICS
- Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
- (2012) NA Hanchard et al. CLINICAL GENETICS
- Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
- (2012) Yuriko Yoneda et al. JOURNAL OF HUMAN GENETICS
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- A fast, lock-free approach for efficient parallel counting of occurrences of k-mers
- (2011) Guillaume Marçais et al. BIOINFORMATICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
- (2010) Valérie Malan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Assembly of large genomes using second-generation sequencing
- (2010) M. C. Schatz et al. GENOME RESEARCH
- Complete Khoisan and Bantu genomes from southern Africa
- (2010) Stephan C. Schuster et al. NATURE
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- A SNP discovery method to assess variant allele probability from next-generation resequencing data
- (2009) Y. Shen et al. GENOME RESEARCH
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Building the sequence map of the human pan-genome
- (2009) Ruiqiang Li et al. NATURE BIOTECHNOLOGY
- 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
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