SNP frequencies in human genes an excess of rare alleles and differing modes of selection.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Trends in Genetics

• Publication date

  2000-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S0168-9525(00)02058-8PMID 10904261
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• HGBASE: a database of SNPs and other variations in and around human genes

  2000cited by this paper
• Individual variation in protein-coding sequences of human genome.

  2000cited by this paper
• dbSNP: a database of single nucleotide polymorphisms

  2000cited by this paper
• Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

  1999cited by this paper
• Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes

  1999cited by this paper
• Characterization of single-nucleotide polymorphisms in coding regions of human genes

  1999cited by this paper
• Pattern of selective constraint in C. elegans and C. briggsae genomes.

  1999cited by this paper
• Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences.

  1998cited by this paper
• Population Genetics: A Concise Guide

  1997cited by this paper
• Variations on a Theme: Cataloging Human DNA Sequence Variation

  1997cited by this paper
• Making (anti)sense of non-coding sequence conservation.

  1997cited by this paper
• The Future of Genetic Studies of Complex Human Diseases

  1996cited by this paper
• The New Genomics: Global Views of Biology

  1996cited by this paper
• Human and rodent DNA sequence comparisons: a mosaic model of genomic evolution.

  1995cited by this paper
• HOVERGEN: a database of homologous vertebrate genes.

  1994cited by this paper
• Low nucleotide diversity in man.

  1991cited by this paper
• Molecular Evolutionary Genetics

  1987cited by this paper
• On the number of segregating sites in genetical models without recombination.

  1975cited by this paper
• The advanced theory of statistics

  1945cited by this paper

• Contiguously hydrophobic sequences are functionally significant throughout the human exome

  2021cites this paper
• SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics

  2020cites this paper
• Adaptive molecular evolution of MC1R gene reveals the evidence for positive diversifying selection in indigenous goat populations

  2017cites this paper
• Genetic signature of strong recent positive selection at interleukin-32 gene in goat

  2016cites this paper
• Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.

  2016cites this paper
• COURSE II The Impact of Human Genetics and Genomics in Neurobiology Organized

  2015cites this paper
• Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.

  2014cites this paper
• Gene Expression and Heterosis in Maize Hybrids

  2013cites this paper
• A Scan for Human-Specific Relaxation of Negative Selection Reveals Unexpected Polymorphism in Proteasome Genes

  2013cites this paper
• Characterisation of starch traits and genes in Australian rice germplasm

  2013cites this paper
• Inferring causality and functional significance of human coding DNA variants.

  2012cites this paper
• Weak Selection and Protein Evolution

  2012influential citation
• Scientific opinion addressing the safety assessment of plants developed through cisgenesis and intragenesis

  2012cites this paper
• In silico investigation of functional nsSNPs – an approach to rational drug design

  2012cites this paper
• Analyzing Effects of Naturally Occurring Missense Mutations

  2012cites this paper
• INFERRING THE FUNCTIONAL SIGNIFICANCE OF MISSENSE MUTATIONS INVOLVED IN MENDELIAN PHENOTYPES

  2012cites this paper
• Advances in Cohen syndrome diagnosis by MLPA and NGS

  2011cites this paper
• Predictive bioinformatic methods for analyzing genes and proteins

  2011cites this paper
• Discovery and interpretation of genetic variation with next-generation sequencing technologies.

  2011cites this paper
• Discovery of polymorphisms in starch-related genes in rice germplasm by amplification of pooled DNA and deeply parallel sequencing.

  2011cites this paper
• PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

  2010cites this paper
• Factors affecting metformin plasma concentrations

  2010cites this paper
• Mitochondrial pathogenic mutations are population-specific

  2010cites this paper
• Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

  2010cites this paper
• Utilização de ferramentas computacionais para o estudo do impacto funcional e estrutural de nsSNPs em genes codificadores de proteínas

  2010cites this paper
• Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes

  2010cites this paper
• Genetic contributions to brain fiber architecture and neuroanatomical alterations in alcohol dependent individuals : a correlation study

  2010cites this paper
• Modeling effects of human single nucleotide polymorphisms on protein-protein interactions.

  2009cites this paper
• Landscape genomics and biased FST approaches reveal single nucleotide polymorphisms under selection in goat breeds of North-East Mediterranean

  2009cites this paper
• The word landscape of the non-coding segments of the Arabidopsis thaliana genome

  2009cites this paper
• Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome

  2009cites this paper
• Studying genetic variations in cancer prognosis (and risk): a primer for clinicians.

  2009cites this paper
• Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms–mismatch repair (MAPP‐MMR)

  2008cites this paper
• Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions.

  2008cites this paper
• Functional studies of accessory factors associated with base excision repair

  2008cites this paper
• The Impact of Natural Selection on the Genome: Emerging Patterns in Drosophila and Arabidopsis

  2008cites this paper
• Selective Constraints and Human Disease Genes: Evolutionary and Bioinformatics Approaches

  2008cites this paper
• Biological implications of SNPs in signal peptide domains of human proteins

  2007cites this paper
• Characterization of single nucleotide polymorphisms in sheep and their variation as evidence of selection.

  2006cites this paper
• Estimating Selection on Nonsynonymous Mutations

  2006influential citation
• Transport of drugs in the kidney by the human organic cation transporter, OCT2 and its genetic variants.

  2006cites this paper
• Estimating selection on non-synonymous mutations

  2005cites this paper
• Simultaneous inference of selection and population growth from patterns of variation in the human genome

  2005cites this paper
• Prediction of pathogenic mutations in mitochondrially encoded human tRNAs.

  2005cites this paper
• Estudio Genético y Biodemográfico del archipiélago de las Azores (Portugal)

  2005cites this paper
• ADDRESSING THE MOLECULAR BASES OF HETEROSIS IN MAIZE (Zea mays L.)

  2005cites this paper
• Systematic investigation of genetic variability in 111 human genes—implications for studying variable drug response

  2005cites this paper
• Molecular signatures of natural selection.

  2005cites this paper
• Reconstituting the Frequency Spectrum of Ascertained Single-Nucleotide Polymorphism Data

  2004cites this paper
• The Allele Frequency Spectrum in Genome-Wide Human Variation Data Reveals Signals of Differential Demographic History in Three Large World Populations

  2004cites this paper
• Population genetic analysis of ascertained SNP data

  2004cites this paper
• Inference of positive and negative selection on the 5' regulatory regions of Drosophila genes.

  2004cites this paper
• Candidate nsSNPs that can affect the functions and interactions of cell cycle proteins

  2004cites this paper
• Allelic Variation of Gene Expression in Maize Hybrids

  2004cites this paper
• Comparative Population Genetics of the Panicoid Grasses: Sequence Polymorphism, Linkage Disequilibrium and Selection in a Diverse Sample of Sorghum bicolor

  2004cites this paper
• Genetic variation and pharmacogenomics: concepts, facts, and challenges

  2004cites this paper
• Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function.

  2004cites this paper
• Signatures of natural selection in the human genome

  2003cites this paper
• Chapter 25. SNPs: A human genetic tool for the new millennium

  2003cites this paper
• Selection on human genes as revealed by comparisons to chimpanzee cDNA.

  2003cites this paper
• Impact of selection, mutation rate and genetic drift on human genetic variation.

  2003cites this paper
• Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes.

  2003cites this paper
• Functional Assessment of Amino Acid Variation Caused by Single-Nucleotide Polymorphisms: A Structural View

  2003cites this paper
• First-generation SNP/InDel markers tagging loci for pathogen resistance in the potato genome.

  2003cites this paper
• Haplotypes and the systematic analysis of genetic variation in genes and genomes.

  2003cites this paper
• Human non-synonymous SNPs: server and survey.

  2002cites this paper
• The functional importance of disease-associated mutation

  2002cites this paper
• Sequence variations in the public human genome data reflect a bottlenecked population history

  2002cites this paper
• The matrix coalescent and an application to human single-nucleotide polymorphisms.

  2002cites this paper
• SNP frequency, haplotype structure and linkage disequilibrium in elite maize inbred lines

  2002cites this paper
• Structural Models of Osteogenesis Imperfecta-associated Variants in the COL1A1 Gene*

  2002cites this paper
• SNPs in putative regulatory regions identified by human mouse comparative sequencing and transcription factor binding site data

  2002cites this paper
• Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.

  2002cites this paper
• Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes

  2002cites this paper
• DNA Polymorphism in Population Genetics

  2002cites this paper
• Interrogating a high-density SNP map for signatures of natural selection.

  2002cites this paper
• Positive and negative selection on the human genome.

  2001cites this paper
• Double-stranded RNA as a not-self alarm signal: to evade, most viruses purine-load their RNAs, but some (HTLV-1, Epstein-Barr) pyrimidine-load.

  2001cites this paper
• Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation.

  2001cites this paper
• Statistical tests of selective neutrality in the age of genomics

  2001cites this paper
• SNP analysis to dissect human traits.

  2001cites this paper
• Prediction of deleterious human alleles.

  2001cites this paper
• Adaptive value of polymorphism in intracellular self/not-self discrimination?

  2001cites this paper
• Genetic approaches to understanding human adaptation to altitude in the Andes.

  2001cites this paper
• High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men.

  2001cites this paper
• Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans.

  2001cites this paper
• Genome-Wide Analysis of Single Nucleotide Polymorphisms in and near Genes and Evolutionary Conserved DNA

  year unknowncites this paper