Class information for:
Level 1: RARE VARIANTS//GENETIC EPIDEMIOLOGY//BURDEN TEST

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
3009 2087 37.8 85%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
447 3       TCTP//TRANSLATIONALLY CONTROLLED TUMOR PROTEIN//GENETIC EPIDEMIOLOGY 26092
257 2             GENETIC EPIDEMIOLOGY//HUMAN HEREDITY//GENETICS & HEREDITY 19642
3009 1                   RARE VARIANTS//GENETIC EPIDEMIOLOGY//BURDEN TEST 2087

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 RARE VARIANTS authKW 910868 7% 41% 152
2 GENETIC EPIDEMIOLOGY journal 596244 15% 13% 311
3 BURDEN TEST authKW 222518 1% 89% 17
4 GENOME WIDE ASSOCIATION STUDY authKW 159247 7% 7% 149
5 PATHWAY BASED ANALYSIS authKW 136369 1% 55% 17
6 RARE VARIANT ANALYSIS authKW 132993 0% 91% 10
7 GENOTYPE IMPUTATION authKW 131647 1% 50% 18
8 GWAS authKW 129663 5% 8% 108
9 PROGRAM MED POPULAT GENET address 118508 5% 8% 96
10 ANALYT TRANSLAT GENET UNIT address 113792 2% 16% 48

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with term
in class
1 Genetics & Heredity 63826 72% 0% 1494
2 Mathematical & Computational Biology 58762 31% 1% 643
3 Biochemical Research Methods 2497 12% 0% 256
4 Biotechnology & Applied Microbiology 2097 15% 0% 304
5 Statistics & Probability 917 6% 0% 117
6 Biochemistry & Molecular Biology 90 10% 0% 217
7 Medical Informatics 53 1% 0% 16
8 Biology 23 2% 0% 35
9 Evolutionary Biology 11 1% 0% 19
10 Computer Science, Interdisciplinary Applications 3 1% 0% 21

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 PROGRAM MED POPULAT GENET 118508 5% 8% 96
2 ANALYT TRANSLAT GENET UNIT 113792 2% 16% 48
3 STAT GENET 106111 4% 8% 90
4 FOOD AGR SYST 73745 1% 46% 11
5 CHARLES BRONFMAN PERSONALIZED MED 54852 1% 17% 22
6 HUMAN GENET 54631 19% 1% 403
7 WELLCOME TRUST HUMAN GENET 54621 5% 4% 105
8 GENET OBES RELATED METAB TRAITS PROGRAM 53068 1% 24% 15
9 BIOSTAT 50861 26% 1% 546
10 BASIC TRANSLAT OBES 47000 1% 21% 15

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 GENETIC EPIDEMIOLOGY 596244 15% 13% 311
2 AMERICAN JOURNAL OF HUMAN GENETICS 50123 8% 2% 166
3 BIOINFORMATICS 35919 8% 2% 162
4 HUMAN HEREDITY 29937 3% 3% 65
5 PLOS GENETICS 23711 5% 2% 99
6 EUROPEAN JOURNAL OF HUMAN GENETICS 17378 3% 2% 66
7 NATURE GENETICS 15670 3% 1% 73
8 NATURE REVIEWS GENETICS 10344 1% 2% 29
9 BMC GENETICS 5419 1% 1% 25
10 FRONTIERS IN GENETICS 5258 1% 2% 17

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 RARE VARIANTS 910868 7% 41% 152 Search RARE+VARIANTS Search RARE+VARIANTS
2 BURDEN TEST 222518 1% 89% 17 Search BURDEN+TEST Search BURDEN+TEST
3 GENOME WIDE ASSOCIATION STUDY 159247 7% 7% 149 Search GENOME+WIDE+ASSOCIATION+STUDY Search GENOME+WIDE+ASSOCIATION+STUDY
4 PATHWAY BASED ANALYSIS 136369 1% 55% 17 Search PATHWAY+BASED+ANALYSIS Search PATHWAY+BASED+ANALYSIS
5 RARE VARIANT ANALYSIS 132993 0% 91% 10 Search RARE+VARIANT+ANALYSIS Search RARE+VARIANT+ANALYSIS
6 GENOTYPE IMPUTATION 131647 1% 50% 18 Search GENOTYPE+IMPUTATION Search GENOTYPE+IMPUTATION
7 GWAS 129663 5% 8% 108 Search GWAS Search GWAS
8 SKAT 89604 0% 88% 7 Search SKAT Search SKAT
9 KERNEL MACHINE REGRESSION 85112 0% 73% 8 Search KERNEL+MACHINE+REGRESSION Search KERNEL+MACHINE+REGRESSION
10 MULTIPLE PHENOTYPES 78992 0% 60% 9 Search MULTIPLE+PHENOTYPES Search MULTIPLE+PHENOTYPES

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref.
in cl.		 Shr. of ref. in
cl.		 Citations
1 LEE, S , ABECASIS, GR , BOEHNKE, M , LIN, XH , (2014) RARE-VARIANT ASSOCIATION ANALYSIS: STUDY DESIGNS AND STATISTICAL TESTS.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 95. ISSUE 1. P. 5 -23 79 61% 134
2 BURKETT, K , GREENWOOD, C , (2013) A SEQUENCE OF METHODOLOGICAL CHANGES DUE TO SEQUENCING.CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY. VOL. 13. ISSUE 5. P. 470-477 56 95% 5
3 SHAM, PC , PURCELL, SM , (2014) STUDY DESIGNS STATISTICAL POWER AND SIGNIFICANCE TESTING IN LARGE-SCALE GENETIC STUDIES.NATURE REVIEWS GENETICS. VOL. 15. ISSUE 5. P. 335 -346 48 60% 92
4 EVANGELOU, E , IOANNIDIS, JPA , (2013) META-ANALYSIS METHODS FOR GENOME-WIDE ASSOCIATION STUDIES AND BEYOND.NATURE REVIEWS GENETICS. VOL. 14. ISSUE 6. P. 379-389 57 54% 117
5 PASANIUC, B , PRICE, AL , (2017) DISSECTING THE GENETICS OF COMPLEX TRAITS USING SUMMARY ASSOCIATION STATISTICS.NATURE REVIEWS GENETICS. VOL. 18. ISSUE 2. P. 117 -127 74 60% 0
6 SANTORICO, SA , HENDRICKS, AE , (2016) PROGRESS IN METHODS FOR RARE VARIANT ASSOCIATION.BMC GENETICS. VOL. 17. ISSUE . P. - 54 72% 2
7 HOFFMANN, TJ , WITTE, JS , (2015) STRATEGIES FOR IMPUTING AND ANALYZING RARE VARIANTS IN ASSOCIATION STUDIES.TRENDS IN GENETICS. VOL. 31. ISSUE 10. P. 556 -563 44 86% 2
8 YAN, Q , TIWARI, HK , YI, NJ , LIN, WY , GAO, GM , LOU, XY , CUI, XQ , LIU, NJ , (2014) KERNEL-MACHINE TESTING COUPLED WITH A RANK-TRUNCATION METHOD FOR GENETIC PATHWAY ANALYSIS.GENETIC EPIDEMIOLOGY. VOL. 38. ISSUE 5. P. 447 -456 45 85% 4
9 LI, MY , HAKONARSON, H , WANG, K , (2010) ANALYSING BIOLOGICAL PATHWAYS IN GENOME-WIDE ASSOCIATION STUDIES.NATURE REVIEWS GENETICS. VOL. 11. ISSUE 12. P. 843 -854 48 48% 373
10 PAN, W , KIM, J , ZHANG, YW , SHEN, XT , WEI, P , (2014) A POWERFUL AND ADAPTIVE ASSOCIATION TEST FOR RARE VARIANTS.GENETICS. VOL. 197. ISSUE 4. P. 1081 -U64 41 84% 12

Classes with closest relation at Level 1


Rank Class id link
1 12684 GENE GENE INTERACTION//EPISTASIS//MULTIFACTOR DIMENSIONALITY REDUCTION
2 7631 GENETIC EPIDEMIOLOGY//GENOTYPING ERROR//HARDY WEINBERG EQUILIBRIUM
3 14724 ZNF804A//CACNA1C//ANK3
4 4394 HAPLOTYPE INFERENCE//LINKAGE DISEQUILIBRIUM//HAPLOTYPE ASSEMBLY
5 29212 ZFAT//CENT ADV MOL MED//ZBTB38 GENE
6 8478 EQTL//GENETICAL GENOMICS//EQTL MAPPING
7 5978 ANCESTRY INFORMATIVE MARKERS//POPULATION STRATIFICATION//ANCESTRY
8 9236 9P21//CHROMOSOME 9P21//CIRCULATION-CARDIOVASCULAR GENETICS
9 20321 COMPLEX DIS GENOM//ATP2B1//SPECIALTIES INTERNAL MED
10 5891 GENOMIC SELECTION//GENOMIC PREDICTION//GENPRED

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