(Q39968902)

English

Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations (English)

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

1

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

5

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

author name string

Michael P Suleski

2

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

Glenn J Markov

3

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

Simon Lawrence

4

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

Alan J Filipski

6

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

publication date

22 June 2009

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

Genome Research

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

19

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

9

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

1562-1569

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

The UCSC Genome Browser Database: update 2009

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

The diploid genome sequence of an Asian individual

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

A catalog of neutral and deleterious polymorphism in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Assessing the evolutionary impact of amino acid mutations in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Proportionally more deleterious genetic variation in European than in African populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

SNPs in disease gene mapping, medicinal drug development and evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

The diploid genome sequence of an individual human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

SNAP: predict effect of non-synonymous polymorphisms on function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

TimeTree: a public knowledge-base of divergence times among organisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Higher intensity of purifying selection on >90% of the human genes revealed by the intrinsic replacement mutation rates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Predicting the effects of amino acid substitutions on protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

The distribution of fitness effects of new deleterious amino acid mutations in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

The predicted impact of coding single nucleotide polymorphisms database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Gene expression intensity shapes evolutionary rates of the proteins encoded by the vertebrate genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Initial sequencing and comparative analysis of the mouse genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Dobzhansky-Muller incompatibilities in protein evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Basic local alignment search tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

22 September 2017

Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

20 August 2018

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

20 August 2018

PSIC: profile extraction from sequence alignments with position-specific counts of independent observations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752122

20 August 2018

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19546171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of the strength of selection against amino acid replacements in human proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/19546171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/GR.091991.109

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 September 2017

ResearchGate publication ID

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