Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (Q33995474)

30 July 2017

1 reference

title

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (English)

1 reference

30 July 2017

2

1 reference

30 July 2017

Gregory M Cooper

1

1 reference

30 July 2017

18 August 2011

1 reference

30 July 2017

Nature Reviews Genetics

1 reference

30 July 2017

12

1 reference

30 July 2017

628-640

1 reference

30 July 2017

9

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg3046

30 July 2017

0 references

cites work

Next-generation DNA sequencing

1 reference

Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

1 reference

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

Initial impact of the sequencing of the human genome

21 January 2018

1 reference

Genomics, prior probability, and statistical tests of multiple hypotheses.

21 January 2018

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

Subtree power analysis and species selection for comparative genomics

21 January 2018

1 reference

Trade-offs in detecting evolutionarily constrained sequence by comparative genomics

21 January 2018

1 reference

A model of the statistical power of comparative genome sequence analysis

21 January 2018

1 reference

Initial sequence of the chimpanzee genome and comparison with the human genome

21 January 2018

1 reference

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 January 2018

1 reference

Initial sequencing and comparative analysis of the mouse genome

21 January 2018

1 reference

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

21 January 2018

1 reference

Phylogenetic shadowing of primate sequences to find functional regions of the human genome

21 January 2018

1 reference

Close sequence comparisons are sufficient to identify human cis-regulatory elements.

21 January 2018

1 reference

Origins, evolution, and phenotypic impact of new genes.

21 January 2018

1 reference

Positive selection of a gene family during the emergence of humans and African apes

21 January 2018

1 reference

Species-specific endogenous retroviruses shape the transcriptional network of the human tumor suppressor protein p53.

21 January 2018

1 reference

Molecular evolution of FOXP2, a gene involved in speech and language

21 January 2018

1 reference

Human-specific gain of function in a developmental enhancer

21 January 2018

1 reference

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

21 January 2018

1 reference

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

21 January 2018

1 reference

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

Loss-of-function variants in the genomes of healthy humans

21 January 2018

1 reference

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

Deleterious SNP prediction: be mindful of your training data!

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

SNAP: predict effect of non-synonymous polymorphisms on function

21 January 2018

1 reference

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

21 January 2018

1 reference

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

PANTHER: a library of protein families and subfamilies indexed by function

21 January 2018

1 reference

Finding new structural and sequence attributes to predict possible disease association of single amino acid polymorphism (SAP).

21 January 2018

1 reference

Identification of deleterious mutations within three human genomes

21 January 2018

1 reference

nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms

21 January 2018

1 reference

Prediction of deleterious human alleles

21 January 2018

1 reference

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

The evolutionary fate and consequences of duplicate genes

21 January 2018

1 reference

The use of orthologous sequences to predict the impact of amino acid substitutions on protein function

21 January 2018

1 reference

Predicting deleterious nsSNPs: an analysis of sequence and structural attributes

21 January 2018

1 reference

Evaluation of structural and evolutionary contributions to deleterious mutation prediction.

21 January 2018

1 reference

Loss of protein structure stability as a major causative factor in monogenic disease.

21 January 2018

1 reference

Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information.

21 January 2018

1 reference

Predicting disease-associated substitution of a single amino acid by analyzing residue interactions

21 January 2018

1 reference

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

21 January 2018

1 reference

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

21 January 2018

1 reference

Gene-expression variation within and among human populations

21 January 2018

1 reference

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

21 January 2018

1 reference

Evolution at two levels in humans and chimpanzees

21 January 2018

1 reference

Evolution at two levels: on genes and form

21 January 2018

1 reference

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 January 2018

1 reference

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

21 January 2018

1 reference

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

21 January 2018

1 reference

Highly conserved non-coding sequences are associated with vertebrate development

21 January 2018

1 reference

The Draft Genome of Ciona intestinalis: Insights into Chordate and Vertebrate Origins

21 January 2018

1 reference

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

Distribution and intensity of constraint in mammalian genomic sequence

21 January 2018

1 reference

Analysis of sequence conservation at nucleotide resolution

21 January 2018

1 reference

Identification and characterization of multi-species conserved sequences

21 January 2018

1 reference

Active conservation of noncoding sequences revealed by three-way species comparisons

21 January 2018

1 reference

Local DNA topography correlates with functional noncoding regions of the human genome

21 January 2018

1 reference

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

21 January 2018

1 reference

Splicing in disease: disruption of the splicing code and the decoding machinery

21 January 2018

1 reference

Conserved noncoding sequences are selectively constrained and not mutation cold spots

21 January 2018

1 reference

Human genome ultraconserved elements are ultraselected

21 January 2018

1 reference

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

21 January 2018

1 reference

In vivo enhancer analysis of human conserved non-coding sequences

21 January 2018

1 reference

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

21 January 2018

1 reference

A user's guide to the encyclopedia of DNA elements (ENCODE)

21 January 2018

1 reference

Global patterns of cis variation in human cells revealed by high-density allelic expression analysis

21 January 2018

1 reference

Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations

21 January 2018

1 reference

Genetic analysis of variation in transcription factor binding in yeast

21 January 2018

1 reference

High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis

21 January 2018

1 reference

Rapid construction of empirical RNA fitness landscapes

21 January 2018

1 reference

High-resolution mapping of protein sequence-function relationships

21 January 2018

1 reference

Mapping and quantifying mammalian transcriptomes by RNA-Seq

21 January 2018

1 reference

Genome-wide mapping of in vivo protein-DNA interactions

21 January 2018

1 reference

Genome-wide analysis of transcription factor E2F1 mutant proteins reveals that N- and C-terminal protein interaction domains do not participate in targeting E2F1 to the human genome

21 January 2018

1 reference

Strategies and applications of in vitro mutagenesis

21 January 2018

1 reference

ChIP-Seq identification of weakly conserved heart enhancers

21 January 2018

1 reference

Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression

21 January 2018

1 reference

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

Genetic studies of the lac repressor. XIV. Analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as "spacers" which do not require a specific sequence.

21 January 2018

1 reference

Systematic mutation of bacteriophage T4 lysozyme.

21 January 2018

1 reference

The IARC TP53 database: new online mutation analysis and recommendations to users

21 January 2018

1 reference

The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants

21 January 2018

1 reference

Evolution of regulatory sequences in 12 Drosophila species

21 January 2018

1 reference

Position specific variation in the rate of evolution in transcription factor binding sites

21 January 2018

1 reference

ChIP-seq accurately predicts tissue-specific activity of enhancers

21 January 2018

1 reference

Capturing chromosome conformation

21 January 2018

1 reference

A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions

21 January 2018

1 reference

Genetic interactions between transcription factors cause natural variation in yeast

21 January 2018

1 reference

Gene-environment interactions at nucleotide resolution

21 January 2018

1 reference

Towards a proteome-scale map of the human protein–protein interaction network

21 January 2018

1 reference

Genetics of gene expression and its effect on disease

21 January 2018

1 reference

Gene ontology: tool for the unification of biology

21 January 2018

1 reference

The future of genetic studies of complex human diseases

21 January 2018

1 reference

Why most published research findings are false

21 January 2018

1 reference

No adjustments are needed for multiple comparisons

21 January 2018

1 reference

Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans

21 January 2018

1 reference

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

21 January 2018

1 reference

Complete mutagenesis of the HIV-1 protease

21 January 2018

1 reference

Qualifying the relationship between sequence conservation and molecular function

21 January 2018

1 reference

Sequence-based prediction of pathological mutations

31 March 2020

1 reference

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

31 March 2020

1 reference

Functional architecture and evolution of transcriptional elements that drive gene coexpression

31 March 2020

1 reference

A probabilistic disease-gene finder for personal genomes.

31 March 2020

1 reference

A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility.

31 March 2020

1 reference

Sequential tests for the detection of linkage

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850043

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRG3046

1 reference

PubMed ID

21850043

Dimensions Publication ID

30 July 2017

0 references

1 reference

PubMed ID

21850043