Related references
Note: Only part of the references are listed.Detecting false-positive signals in exome sequencing
Karin V. Fuentes Fajardo et al.
HUMAN MUTATION (2012)
Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia
Catherine C. Smith et al.
NATURE (2012)
De novo assembly and genotyping of variants using colored de Bruijn graphs
Zamin Iqbal et al.
NATURE GENETICS (2012)
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
Mark Y. Tong et al.
BIOINFORMATICS (2011)
BamTools: a C++ API and toolkit for analyzing and managing BAM files
Derek W. Barnett et al.
BIOINFORMATICS (2011)
Gene inactivation and its implications for annotation in the era of personal genomics
Suganthi Balasubramanian et al.
GENES & DEVELOPMENT (2011)
A Novel Pathogenic Nonsense Triple-Nucleotide Mutation in the Low-Density Lipoprotein Receptor Gene and Its Clinical Correlation with Familial Hypercholesterolemia
Muhammad Ajmal et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2011)
Low-coverage sequencing: Implications for design of complex trait association studies
Yun Li et al.
GENOME RESEARCH (2011)
Next generation genome-wide association tool: Design and coverage of a high-throughput European-optimized SNP array
Thomas J. Hoffmann et al.
GENOMICS (2011)
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Kate M. Im et al.
HUMAN GENETICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
The importance of phase information for human genomics
Ryan Tewhey et al.
NATURE REVIEWS GENETICS (2011)
The UCSC Genome Browser database: update 2011
Pauline A. Fujita et al.
NUCLEIC ACIDS RESEARCH (2011)
Genotype Imputation with Thousands of Genomes
Bryan Howie et al.
G3-GENES GENOMES GENETICS (2011)
Modernizing Reference Genome Assemblies
Deanna M. Church et al.
PLOS BIOLOGY (2011)
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Frederick E. Dewey et al.
PLOS GENETICS (2011)
GATExplorer: Genomic and Transcriptomic Explorer; mapping expression probes to gene loci, transcripts, exons and ncRNAs
Alberto Risueno et al.
BMC BIOINFORMATICS (2010)
Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
Sarah E. Flanagan et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
Loss-of-function variants in the genomes of healthy humans
Daniel G. MacArthur et al.
HUMAN MOLECULAR GENETICS (2010)
The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients
A. Pardanani et al.
LEUKEMIA (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
Building the sequence map of the human pan-genome
Ruiqiang Li et al.
NATURE BIOTECHNOLOGY (2010)
Characterization of missing human genome sequences and copy-number polymorphic insertions
Jeffrey M. Kidd et al.
NATURE METHODS (2010)
Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing
Jeffrey A. Rosenfeld et al.
NUCLEIC ACIDS RESEARCH (2010)
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Jared C. Roach et al.
SCIENCE (2010)
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
Kim D. Pruitt et al.
GENOME RESEARCH (2009)
SNP detection for massively parallel whole-genome resequencing
Ruiqiang Li et al.
GENOME RESEARCH (2009)
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
Amy V. Jones et al.
NATURE GENETICS (2009)
Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia
Todd Lencz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
TAGster: efficient selection of LD tag SNPs in single or multiple populations
Zongli Xu et al.
BIOINFORMATICS (2007)
The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies
Lutecia H. Mateus Pereira et al.
BMC GENETICS (2007)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Interpreting missense variants:: Comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)
Philip A. Chan et al.
HUMAN MUTATION (2007)
Genotyping of triallelic SNPs using TaqMan® PCR
Akihiko Morita et al.
MOLECULAR AND CELLULAR PROBES (2007)
Triallelic single nucleotide polymorphisms and genotyping error in genetic epidemiology studies:: MDR1 (ABCB1) G2677/T/A as an example
Claudia Huebner et al.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION (2007)
Distribution of human SNPs and its effect on high-throughput genotyping
DC Koboldt et al.
HUMAN MUTATION (2006)
Genetic Epidemiology 4 - Shaking the tree: mapping complex disease genes with linkage disequilibrium
LJ Palmer et al.
LANCET (2005)
A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk
ML Freedman et al.
CANCER RESEARCH (2005)
A genome-wide scalable SNP genotyping assay using microarray technology
KL Gunderson et al.
NATURE GENETICS (2005)
Complement factor H polymorphism in age-related macular degeneration
RJ Klein et al.
SCIENCE (2005)
Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer
DG Cox et al.
BREAST CANCER RESEARCH (2005)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Computational comparison of two draft sequences of the human genome
J Aach et al.
NATURE (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic
V Westphal et al.
MOLECULAR GENETICS AND METABOLISM (2000)