Computational approaches to study the effects of small genomic variations
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| 001 | 605512213 | ||
| 003 | CHVBK | ||
| 005 | 20210128100654.0 | ||
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| 008 | 210128e20151001xx s 000 0 eng | ||
| 024 | 7 | 0 | |a 10.1007/s00894-015-2794-y |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s00894-015-2794-y | ||
| 245 | 0 | 0 | |a Computational approaches to study the effects of small genomic variations |h [Elektronische Daten] |c [Kamil Khafizov, Maxim Ivanov, Olga Glazova, Sergei Kovalenko] |
| 520 | 3 | |a Advances in DNA sequencing technologies have led to an avalanche-like increase in the number of gene sequences deposited in public databases over the last decade as well as the detection of an enormous number of previously unseen nucleotide variants therein. Given the size and complex nature of the genome-wide sequence variation data, as well as the rate of data generation, experimental characterization of the disease association of each of these variations or their effects on protein structure/function would be costly, laborious, time-consuming, and essentially impossible. Thus, in silico methods to predict the functional effects of sequence variations are constantly being developed. In this review, we summarize the major computational approaches and tools that are aimed at the prediction of the functional effect of mutations, and describe the state-of-the-art databases that can be used to obtain information about mutation significance. We also discuss future directions in this highly competitive field. | |
| 540 | |a Springer-Verlag Berlin Heidelberg, 2015 | ||
| 690 | 7 | |a Bioinformatics |2 nationallicence | |
| 690 | 7 | |a Computational methods |2 nationallicence | |
| 690 | 7 | |a Single-nucleotide polymorphism |2 nationallicence | |
| 690 | 7 | |a Coding SNP |2 nationallicence | |
| 690 | 7 | |a Mutation databases |2 nationallicence | |
| 690 | 7 | |a TCGA : The Cancer Genome Atlas |2 nationallicence | |
| 690 | 7 | |a ICGC : International Cancer Genome Consortium |2 nationallicence | |
| 690 | 7 | |a SNP : Single nucleotide polymorphism |2 nationallicence | |
| 690 | 7 | |a HGMD : Human Gene Mutation Database |2 nationallicence | |
| 690 | 7 | |a sSNP : Nonsynonymous SNP |2 nationallicence | |
| 690 | 7 | |a OMIM : Online Mendelian Inheritance in Man |2 nationallicence | |
| 690 | 7 | |a HGV : Human Genome Variation |2 nationallicence | |
| 690 | 7 | |a PMD : Protein Mutant Database |2 nationallicence | |
| 690 | 7 | |a EVS : Exome Variant Server |2 nationallicence | |
| 690 | 7 | |a COSMIC : Collection of somatic mutations in cancer |2 nationallicence | |
| 690 | 7 | |a NCBI : National Center for Biotechnology Information |2 nationallicence | |
| 690 | 7 | |a dbSNP : SNP Database |2 nationallicence | |
| 690 | 7 | |a LSDB : Large number of locus-specific databases |2 nationallicence | |
| 690 | 7 | |a HGVS : Human Genome Variation Society |2 nationallicence | |
| 690 | 7 | |a MAF : Minor allele frequency |2 nationallicence | |
| 690 | 7 | |a MSA : Multiple sequence alignment |2 nationallicence | |
| 690 | 7 | |a PDB : Protein Data Bank |2 nationallicence | |
| 690 | 7 | |a SS : Secondary structure |2 nationallicence | |
| 690 | 7 | |a CAGI : Critical Assessment of Genome Interpretation |2 nationallicence | |
| 700 | 1 | |a Khafizov |D Kamil |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | |
| 700 | 1 | |a Ivanov |D Maxim |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | |
| 700 | 1 | |a Glazova |D Olga |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | |
| 700 | 1 | |a Kovalenko |D Sergei |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | |
| 773 | 0 | |t Journal of Molecular Modeling |d Springer Berlin Heidelberg |g 21/10(2015-10-01), 1-14 |x 1610-2940 |q 21:10<1 |1 2015 |2 21 |o 894 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00894-015-2794-y |q text/html |z Onlinezugriff via DOI |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 900 | 7 | |a Metadata rights reserved |b Springer special CC-BY-NC licence |2 nationallicence | |
| 908 | |D 1 |a review-article |2 jats | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-springer | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s00894-015-2794-y |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Khafizov |D Kamil |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Ivanov |D Maxim |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Glazova |D Olga |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Kovalenko |D Sergei |u Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russian Federation |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Journal of Molecular Modeling |d Springer Berlin Heidelberg |g 21/10(2015-10-01), 1-14 |x 1610-2940 |q 21:10<1 |1 2015 |2 21 |o 894 | ||