Prediction of deleterious human alleles

Human Molecular Genetics

Volumn 10, Issue 6, 2001, Pages 591-597

  Sunyaev, Shamil ^a,b,c   Ramensky, Vasily ^c   Koch, Ina ^c   Lathe III, Warren ^a,b   Kondrashov, Alexey S ^d   Bork, Peer ^a,b  

^a EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c ENGELHARDT INSTITUTE OF MOLECULAR BIOLOGY   (Russian Federation)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PROTEIN;

ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; FITNESS; GENE FREQUENCY; GENOTYPE; HUMAN; METHODOLOGY; PRIORITY JOURNAL; PROTEIN STRUCTURE; RELIABILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0035869223     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.6.591     Document Type: Article

References (36)

1. Characterization of single-nucleotide polymorphisms in coding regions of human genes
2. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
3. Sequence diversity in 36 candidate genes for cardiovascular disorders
4. Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations
5. SNP frequencies in human genes: An excess of rare alleles and differing modes of selection
6. Variations on a theme: Cataloging human DNA sequence variation
7. The future of genetic studies of complex human diseases
8. Analysis of selection on enzyme polymorphisms
9. Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster
10. HGBASE: A database of SNPs and other variations in and around human genes
11. DbSNP: A database of single nucleotide polymorphisms
12. Towards a structural basis of human non-synonymous single nucleotide polymorphisms
13. Sequence and structure of proteins
14. Genetic traces of ancient demography
15. Patterns of DNA variability at X-linked loci in Mus domesticus
16. Low nucleotide diversity in man
17. How to count human genes
18. High genomic deleterious mutation rates in hominids
19. Minor viability mutants in Drosophila
20. Genetic loads and the cost of natural selection
21. Contamination of the genome by very slightly deleterious mutations: Why have we not died 100 times over?
22. An estimate of the mutational damage in man from data on consanguineous marriages
23. The Berkeley Drosophila Genome Project gene disruption project: Single P-element insertions mutating 25% of vital Drosophila genes
24. Timing of sexual intercourse in relation to ovulation - Effects on the probability of conception, survival of the pregnancy, and sex of the baby
25. The costs of human inbreeding and their implications for variations at the DNA level
26. The comparative role of consanguinity in infant and childhood mortality in Pakistan
27. Brother-sister marriage in Roman Egypt
28. Protein folds and families: Sequence and structure alignments
29. Comparison of conformational characteristics in structurally similar protein pairs
30. Structural features can be unconserved in proteins with similar folds. An analysis of side-chain to side-chain contacts secondary structure and accessibility
31. Basic local alignment search tool
32. PSIC: Profile extraction from sequence alignments with position-specific counts of independent observations
33. Are knowledge-based potentials derived from protein structure sets discriminative with respect to amino acid types?
34. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
35. Celtic origin of the C282Y mutation of hemochromatosis