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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium
(2020) Nat Commun 11: 4748
MeSH Terms: Base Composition, DNA, Intergenic, Databases, Genetic, Exome, Exons, Genome, Human, Humans, Mutation, Neoplasms, Retrospective Studies, Whole Exome Sequencing, Whole Genome Sequencing
Added April 27, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
De novo DNA demethylation and noncoding transcription define active intergenic regulatory elements.
Schlesinger F, Smith AD, Gingeras TR, Hannon GJ, Hodges E
(2013) Genome Res 23: 1601-14
MeSH Terms: Animals, B-Lymphocytes, Cell Differentiation, Cell Line, Chromatin, CpG Islands, DNA Methylation, DNA, Intergenic, Enhancer Elements, Genetic, Evolution, Molecular, Female, Gene Expression Profiling, Hematopoietic Stem Cells, High-Throughput Nucleotide Sequencing, Humans, Lymphopoiesis, Pan troglodytes, Phylogeny, Promoter Regions, Genetic, RNA, Untranslated, Regulatory Elements, Transcriptional, Sequence Analysis, DNA, Transcription Initiation, Genetic
Added February 15, 2016
0 Communities
1 Members
0 Resources
23 MeSH Terms
Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.
Bae HT, Baldwin CT, Sebastiani P, Telen MJ, Ashley-Koch A, Garrett M, Hooper WC, Bean CJ, Debaun MR, Arking DE, Bhatnagar P, Casella JF, Keefer JR, Barron-Casella E, Gordeuk V, Kato GJ, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Hoppe C, Gladwin MT, Zhang Y, Steinberg MH
(2012) Blood 120: 1961-2
MeSH Terms: African Americans, Anemia, Sickle Cell, Carrier Proteins, DNA, Intergenic, Fetal Hemoglobin, Genetic Variation, Genome-Wide Association Study, Humans, Nuclear Proteins, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins c-myb, Repressor Proteins
Added November 27, 2013
1 Communities
1 Members
0 Resources
12 MeSH Terms
Single-cell analysis reveals that noncoding RNAs contribute to clonal heterogeneity by modulating transcription factor recruitment.
Bumgarner SL, Neuert G, Voight BF, Symbor-Nagrabska A, Grisafi P, van Oudenaarden A, Fink GR
(2012) Mol Cell 45: 470-82
MeSH Terms: DNA, Intergenic, Gene Expression Regulation, Fungal, In Situ Hybridization, Fluorescence, Membrane Glycoproteins, Models, Genetic, Promoter Regions, Genetic, RNA, Messenger, RNA, Untranslated, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Single-Cell Analysis, Transcription Factors
Added June 2, 2013
0 Communities
1 Members
0 Resources
12 MeSH Terms
Identifying functional annotation for noncoding genomic sequences.
Mortlock DP, Pregizer S
(2012) Curr Protoc Hum Genet Chapter 1: Unit1.10
MeSH Terms: DNA, Intergenic, Databases, Genetic, Genomics, Humans, Internet, Molecular Sequence Annotation, User-Computer Interface
Added September 23, 2013
1 Communities
2 Members
0 Resources
7 MeSH Terms
Preferential localization of human origins of DNA replication at the 5'-ends of expressed genes and at evolutionarily conserved DNA sequences.
Valenzuela MS, Chen Y, Davis S, Yang F, Walker RL, Bilke S, Lueders J, Martin MM, Aladjem MI, Massion PP, Meltzer PS
(2011) PLoS One 6: e17308
MeSH Terms: 5' Flanking Region, Base Sequence, Binding Sites, Cell Line, Chromatin, Conserved Sequence, DNA Replication, DNA, Intergenic, Evolution, Molecular, Gene Expression, Humans, Replication Origin
Added March 10, 2014
0 Communities
1 Members
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12 MeSH Terms
The effect of a novel intergenic polymorphism (rs11774572) on HDL-cholesterol concentrations depends on TaqIB polymorphism in the cholesterol ester transfer protein gene.
Junyent M, Lee YC, Smith CE, Arnett DK, Tsai MY, Kabagambe EK, Straka RJ, Province M, An P, Lai CQ, Parnell LD, Shen J, Borecki I, Ordovas JM
(2010) Nutr Metab Cardiovasc Dis 20: 34-40
MeSH Terms: Adolescent, Adult, Aged, Aged, 80 and over, Cholesterol Ester Transfer Proteins, Cholesterol, HDL, Chromosomes, Human, Pair 8, DNA, Intergenic, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Hypertriglyceridemia, Insulin Resistance, Linkage Disequilibrium, Lipoproteins, Male, Metabolic Syndrome, Middle Aged, Particle Size, Polymorphism, Single Nucleotide, United States, Young Adult
Added April 24, 2015
0 Communities
1 Members
0 Resources
23 MeSH Terms
Investigating single nucleotide polymorphism (SNP) density in the human genome and its implications for molecular evolution.
Zhao Z, Fu YX, Hewett-Emmett D, Boerwinkle E
(2003) Gene 312: 207-13
MeSH Terms: DNA, Intergenic, Databases, Nucleic Acid, Evolution, Molecular, Exons, Gene Frequency, Genome, Human, Humans, Introns, Mutation, Polymorphism, Single Nucleotide
Added March 5, 2014
0 Communities
1 Members
0 Resources
10 MeSH Terms