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。De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
Detelina Grozeva et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Pharmaco-miR: linking microRNAs and drug effects
Jakob Lewin Rukov et al.
BRIEFINGS IN BIOINFORMATICS (2014)
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3
A. Kariminejad et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2014)
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D. Stenson et al.
HUMAN GENETICS (2014)
Landscape of genomic alterations in cervical carcinomas
Akinyemi I. Ojesina et al.
NATURE (2014)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
Comparing a few SNP calling algorithms using low-coverage sequencing data
Xiaoqing Yu et al.
BMC BIOINFORMATICS (2013)
Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants
Kevin P. Kenna et al.
HUMAN MUTATION (2013)
Genome and Transcriptome Sequencing in Prospective Metastatic Triple-Negative Breast Cancer Uncovers Therapeutic Vulnerabilities
David W. Craig et al.
MOLECULAR CANCER THERAPEUTICS (2013)
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov et al.
NATURE (2013)
A Pilot Study Using Next-Generation Sequencing in Advanced Cancers: Feasibility and Challenges
Glen J. Weiss et al.
PLOS ONE (2013)
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Koji M. Nishiguchi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma
Simon J. Furney et al.
CANCER DISCOVERY (2013)
A practical method to detect SNVs and indels from whole genome and exome sequencing data
Daichi Shigemizu et al.
SCIENTIFIC REPORTS (2013)
Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies
Miao-Xin Li et al.
PLOS GENETICS (2013)
Genome and transcriptome sequencing of lung cancers reveal diverse mutational and splicing events
Jinfeng Liu et al.
GENOME RESEARCH (2012)
Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma
Mark J. Kiel et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
Li Ding et al.
NATURE (2012)
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators
Akihiro Fujimoto et al.
NATURE GENETICS (2012)
Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
Koji M. Nishiguchi et al.
PLOS ONE (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
Anatomy of a hash-based long read sequence mapping algorithm for next generation DNA sequencing
Sanchit Misra et al.
BIOINFORMATICS (2011)
Sequencing technologies and genome sequencing
Chandra Shekhar Pareek et al.
JOURNAL OF APPLIED GENETICS (2011)
Initial genome sequencing and analysis of multiple myeloma
Michael A. Chapman et al.
NATURE (2011)
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
Xose S. Puente et al.
NATURE (2011)
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2011)
Whole-Genome Sequencing for Optimized Patient Management
Matthew N. Bainbridge et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Frederick E. Dewey et al.
PLOS GENETICS (2011)
Homozygosity mapping: One more tool in the clinical geneticist's toolbox
Fowzan S. Alkuraya
GENETICS IN MEDICINE (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Clinical assessment incorporating a personal genome
Euan A. Ashley et al.
LANCET (2010)
Genome remodelling in a basal-like breast cancer metastasis and xenograft
Li Ding et al.
NATURE (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Radoje Drmanac et al.
SCIENCE (2010)
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Jared C. Roach et al.
SCIENCE (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Genome sequencing reveals Charcot-Marie-Tooth disease mutation
[Anonymous]
FUTURE NEUROLOGY (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
McKusick's Online Mendelian Inheritance in Man (OMIM®)
Joanna Amberger et al.
NUCLEIC ACIDS RESEARCH (2009)
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Timothy J. Ley et al.
NATURE (2008)
PharmGKB: The Pharmacogenetics Knowledge Base
M Hewett et al.
NUCLEIC ACIDS RESEARCH (2002)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)