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。Improving the in silico assessment of pathogenicity for compensated variants
Luisa Azevedo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh et al.
GENETICS IN MEDICINE (2017)
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events
Meng Li et al.
HUMAN MUTATION (2017)
A variant by any name: quantifying annotation discordance across tools and clinical databases
Jennifer L. Yen et al.
GENOME MEDICINE (2017)
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
Lisa R. Susswein et al.
GENETICS IN MEDICINE (2016)
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease
Mihir Anant Kamat et al.
HUMAN MUTATION (2016)
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)
Christopher Douville et al.
HUMAN MUTATION (2016)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population
Sujatha Jagannathan et al.
GENOME RESEARCH (2016)
Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants
Thomas A. Peterson et al.
HUMAN MUTATION (2016)
Actionable Genes, Core Databases, and Locus-Specific Databases
Amelie Pinard et al.
HUMAN MUTATION (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome
Akihide Shibata et al.
JOURNAL OF HUMAN GENETICS (2016)
Molecular findings from 537 individuals with inherited retinal disease
Jamie M. Ellingford et al.
JOURNAL OF MEDICAL GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Genome-wide significance testing of variation from single case exomes
Amy B. Wilfert et al.
NATURE GENETICS (2016)
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A. Jagadeesh et al.
NATURE GENETICS (2016)
Deep sequencing of 10,000 human genomes
Amalio Telenti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease
Jose Lugo-Martinez et al.
PLOS COMPUTATIONAL BIOLOGY (2016)
Revisiting the morbid genome of Mendelian disorders
Mohamed Abouelhoda et al.
GENOME BIOLOGY (2016)
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
Hashem A. Shihab et al.
BIOINFORMATICS (2015)
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels
Lukas Folkman et al.
BIOINFORMATICS (2015)
Complex and multi-allelic copy number variation in human disease
Christina L. Usher et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2015)
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
Julie Jurgens et al.
GENETICS IN MEDICINE (2015)
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Tychele N. Turner et al.
HUMAN MOLECULAR GENETICS (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes
Albino Bacolla et al.
NUCLEIC ACIDS RESEARCH (2015)
The human gene damage index as a gene-level approach to prioritizing exome variants
Yuval Itan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding
Yali Xue et al.
SCIENCE (2015)
Effect of predicted protein-truncating genetic variants on the human transcriptome
Manuel A. Rivas et al.
SCIENCE (2015)
Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data
Mengmeng Wu et al.
SCIENTIFIC REPORTS (2015)
Secondary findings and carrier test frequencies in a large multiethnic sample
Tomasz Gambin et al.
GENOME MEDICINE (2015)
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
Luis R. Lopes et al.
HEART (2015)
COSMIC: exploring the world's knowledge of somatic mutations in human cancer
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2015)
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
Joanna S. Amberger et al.
NUCLEIC ACIDS RESEARCH (2015)
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response
Luisa Azevedo et al.
HUMAN GENOMICS (2015)
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
Ioannis Karageorgos et al.
HUMAN GENOMICS (2015)
Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results
Holly K. Tabor et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Copy number variations and human genetic disease
Fady M. Mikhail
CURRENT OPINION IN PEDIATRICS (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)
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
Xinjun Zhang et al.
HUMAN MOLECULAR GENETICS (2014)
Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks
Jishnu Das et al.
HUMAN MUTATION (2014)
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Periklis Makrythanasis et al.
HUMAN MUTATION (2014)
Clinical Interpretation and Implications of Whole-Genome Sequencing
Frederick E. Dewey et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Phen-Gen: combining phenotype and genotype to analyze rare disorders
Asif Javed et al.
NATURE METHODS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
RefSeq: an update on mammalian reference sequences
Kim D. Pruitt et al.
NUCLEIC ACIDS RESEARCH (2014)
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Matthew Mort et al.
GENOME BIOLOGY (2014)
Actionable, Pathogenic Incidental Findings in 1,000 Participants' Exomes
Michael O. Dorschner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations
Stephen G. Gonsalves et al.
ANESTHESIOLOGY (2013)
CRAVAT: cancer-related analysis of variants toolkit
Christopher Douville et al.
BIOINFORMATICS (2013)
Identifying Mendelian disease genes with the Variant Effect Scoring Tool
Hannah Carter et al.
BMC GENOMICS (2013)
Interpreting Secondary Cardiac Disease Variants in an Exome Cohort
David Ng et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2013)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al.
GENETICS IN MEDICINE (2013)
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
David N. Cooper et al.
HUMAN GENETICS (2013)
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Hashem A. Shihab et al.
HUMAN MUTATION (2013)
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Xiaoming Liu et al.
HUMAN MUTATION (2013)
Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants
Thomas A. Peterson et al.
JOURNAL OF MOLECULAR BIOLOGY (2013)
The UCSC Genome Browser database: extensions and updates 2013
Laurence R. Meyer et al.
NUCLEIC ACIDS RESEARCH (2013)
Ensembl 2013
Paul Flicek et al.
NUCLEIC ACIDS RESEARCH (2013)
Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease
Albino Bacolla et al.
PLOS GENETICS (2013)
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Yali Xue et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions
Mingxiang Teng et al.
BIOINFORMATICS (2012)
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Robert C. Green et al.
GENETICS IN MEDICINE (2012)
A Combined Functional Annotation Score for Non-Synonymous Variants
Margarida C. Lopes et al.
HUMAN HEREDITY (2012)
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain
George P. Patrinos et al.
HUMAN MUTATION (2012)
Insights into hominid evolution from the gorilla genome sequence
Aylwyn Scally et al.
NATURE (2012)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
Sarah E. Calvo et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
On the Sequence-Directed Nature of Human Gene Mutation: The Role of Genomic Architecture and the Local DNA Sequence Environment in Mediating Gene Mutations Underlying Human Inherited Disease
David N. Cooper et al.
HUMAN MUTATION (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques
Guangmei Yan et al.
NATURE BIOTECHNOLOGY (2011)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
The functional spectrum of low-frequency coding variation
Gabor T. Marth et al.
GENOME BIOLOGY (2011)
Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics
David N. Cooper et al.
HUMAN MUTATION (2010)
Sequencing and analysis of an Irish human genome
Pin Tong et al.
GENOME BIOLOGY (2010)
Automated inference of molecular mechanisms of disease from amino acid substitutions
Biao Li et al.
BIOINFORMATICS (2009)
Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner
Antigone S. Dimas et al.
SCIENCE (2009)
In vitro assays fall to predict in vivo effects of regulatory polymorphisms
Elizabeth T. Cirulli et al.
HUMAN MOLECULAR GENETICS (2007)
Evolutionary and biomedical insights from the rhesus macaque genome
Richard A. Gibbs et al.
SCIENCE (2007)
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
RA Gibbs et al.
NATURE (2004)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
分享论文
