Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations (Q34201078)

31 July 2017

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title

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations (English)

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31 July 2017

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Sudhir Kumar

1

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author name string

Joel T Dudley

series ordinal

2

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31 July 2017

Alan Filipski

series ordinal

3

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31 July 2017

Li Liu

series ordinal

4

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31 July 2017

publication date

20 July 2011

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31 July 2017

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31 July 2017

volume

27

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31 July 2017

issue

9

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31 July 2017

page(s)

377-386

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Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

31 July 2017

cites work

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5 July 2018

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Characterization of a naturally-occurring p27 mutation predisposing to multiple endocrine tumors.

5 July 2018

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5 July 2018

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Signatures of mutation and selection in the cancer genome

5 July 2018

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5 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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A pathway-based view of human diseases and disease relationships

5 July 2018

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The diploid genome sequence of an Asian individual

5 July 2018

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Accurate whole human genome sequencing using reversible terminator chemistry

5 July 2018

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20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria

5 July 2018

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Exhaustive prediction of disease susceptibility to coding base changes in the human genome

5 July 2018

1 reference

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Natural selection on genes that underlie human disease susceptibility

5 July 2018

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The complete genome of an individual by massively parallel DNA sequencing

5 July 2018

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5 July 2018

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Analysis of the residue-residue coevolution network and the functionally important residues in proteins.

5 July 2018

1 reference

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Predicting the phenotypic effects of non-synonymous single nucleotide polymorphisms based on support vector machines

5 July 2018

1 reference

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Determinants of protein function revealed by combinatorial entropy optimization

5 July 2018

1 reference

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The diploid genome sequence of an individual human

5 July 2018

1 reference

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Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations

5 July 2018

1 reference

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Mouse duplicate genes are as essential as singletons

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

1 reference

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Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome

5 July 2018

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Characterization of compensated mutations in terms of structural and physico-chemical properties.

5 July 2018

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Predicting the effects of amino acid substitutions on protein function

5 July 2018

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5 July 2018

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5 July 2018

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Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

5 July 2018

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5 July 2018

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High-throughput site-directed mutagenesis using oligonucleotides synthesized on DNA chips

5 July 2018

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5 July 2018

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Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

5 July 2018

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Why are some human disease-associated mutations fixed in mice?

5 July 2018

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The amino-acid mutational spectrum of human genetic disease

5 July 2018

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SIFT: Predicting amino acid changes that affect protein function

5 July 2018

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

5 July 2018

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Dobzhansky-Muller incompatibilities in protein evolution

5 July 2018

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5 July 2018

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Initial sequencing and analysis of the human genome

5 July 2018

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5 July 2018

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Towards a structural basis of human non-synonymous single nucleotide polymorphisms

5 July 2018

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Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins

5 July 2018

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The genetics of complex diseases

5 July 2018

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Genetic dissection of complex traits

5 July 2018

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Genetic factors in the presence, severity, and triggers of asthma

5 July 2018

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Amino acid difference formula to help explain protein evolution

5 July 2018

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5 July 2018

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Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

5 July 2018

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28 October 2018

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Human disease-associated mitochondrial mutations fixed in nonhuman primates.

28 October 2018

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Genetic factors in type 2 diabetes: the end of the beginning?

28 October 2018

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28 October 2018

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The spectrum of human rhodopsin disease mutations through the lens of interspecific variation

28 October 2018

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Understanding human disease mutations through the use of interspecific genetic variation

28 October 2018

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28 October 2018

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Genetic susceptibility to death from coronary heart disease in a study of twins

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Exploring the differences in evolutionary rates between monogenic and polygenic disease genes in human

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Whole-genome sequencing breaks the cost barrier

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12 December 2020

Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes

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12 December 2020

An integrative scoring system for ranking SNPs by their potential deleterious effects

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12 December 2020

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations

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12 December 2020

10.1016/J.TIG.2011.06.004

Identifiers

DOI

1 reference

31 July 2017

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31 July 2017

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