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[PMID]:28457509
[Au] Autor:Fracasso NCA; de Andrade ES; Wiezel CEV; Andrade CCF; Zanão LR; da Silva MS; Marano LA; Donadi EA; C Castelli E; Simões AL; Mendes-Junior CT
[Ad] Endereço:Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900, Ribeirão Preto-SP, Brazil. Electronic address: nadiadeaguiar@gmail.com.
[Ti] Título:Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.
[So] Source:Leg Med (Tokyo);25:43-51, 2017 Mar.
[Is] ISSN:1873-4162
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation-Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.
[Mh] Termos MeSH primário: Cor de Olho/genética
Cor de Cabelo/genética
Haplótipos/genética
Melanose/genética
Pigmentação da Pele/genética
[Mh] Termos MeSH secundário: Alelos
Brasil
Frequência do Gene
Projeto Genoma Humano
Seres Humanos
Polimorfismo de Fragmento de Restrição
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE


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[PMID]:29179688
[Au] Autor:Shraga R; Yarnall S; Elango S; Manoharan A; Rodriguez SA; Bristow SL; Kumar N; Niknazar M; Hoffman D; Ghadir S; Vassena R; Chen SH; Hershlag A; Grifo J; Puig O
[Ad] Endereço:Phosphorus, Inc, 25 West 26th St, New York, NY, 10010, USA.
[Ti] Título:Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.
[So] Source:BMC Genet;18(1):99, 2017 Nov 28.
[Is] ISSN:1471-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance. RESULTS: We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity. CONCLUSION: Our analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.
[Mh] Termos MeSH primário: Grupos de Populações Continentais/genética
Grupos Étnicos/genética
Triagem de Portadores Genéticos
Autorrelato
[Mh] Termos MeSH secundário: Projeto Genoma Humano
Seres Humanos
Modelos Genéticos
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180110
[Lr] Data última revisão:
180110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171129
[St] Status:MEDLINE
[do] DOI:10.1186/s12863-017-0570-y


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[PMID]:28595281
[Au] Autor:Das R; Upadhyai P
[Ad] Endereço:Manipal Centre for Natural Sciences (MCNS), Manipal University, Karnataka, India.
[Ti] Título:Unraveling the Population History of Indian Siddis.
[So] Source:Genome Biol Evol;9(6):1385-1392, 2017 Jun 01.
[Is] ISSN:1759-6653
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The Siddis are a unique Indian tribe of African, South Asian, and European ancestry. While previous investigations have traced their ancestral origins to the Bantu populations from subSaharan Africa, the geographic localization of their ancestry has remained elusive. Here, we performed biogeographical analysis to delineate the ancestral origin of the Siddis employing an admixture based algorithm, Geographical Population Structure (GPS). We evaluated the Siddi genomes in reference to five African populations from the 1000 Genomes project, two Bantu groups from the Human Genome Diversity Panel (HGDP) and five South Indian populations. The Geographic Population Structure analysis localized the ancestral Siddis to Botsawana and its present-day northeastern border with Zimbabwe, overlapping with one of the principal areas of secondary Bantu settlement in southeast Africa. Our results further indicated that while the Siddi genomes are significantly diverged from that of the Bantus, they manifested the highest genomic proximity to the North-East Bantus and the Luhyas from Kenya. Our findings resonate with evidences supporting secondary Bantu dispersal routes that progressed southward from the east African Bantu center, in the interlacustrine region and likely brought the ancestral Siddis to settlement sites in south and southeastern Africa from where they were disseminated to India, by the Portuguese. We evaluated our results in the light of existing historical, linguistic and genetic evidences, to glean an improved resolution into the reconstruction of the distinctive population history of the Siddis, and advance our knowledge of the demographic factors that likely contributed to the contemporary Siddi genomes.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Africano/genética
Grupo com Ancestrais do Continente Asiático/genética
Grupo com Ancestrais do Continente Europeu/genética
Evolução Molecular
[Mh] Termos MeSH secundário: Algoritmos
Cromossomos Humanos Y
DNA Mitocondrial/genética
Frequência do Gene
Marcadores Genéticos
Variação Genética
Genética Populacional
Genoma Humano
Haplótipos
Projeto Genoma Humano
Seres Humanos
Índia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 0 (Genetic Markers)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1093/gbe/evx095


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[PMID]:28366442
[Au] Autor:Martin AR; Gignoux CR; Walters RK; Wojcik GL; Neale BM; Gravel S; Daly MJ; Bustamante CD; Kenny EE
[Ad] Endereço:Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad
[Ti] Título:Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
[So] Source:Am J Hum Genet;100(4):635-649, 2017 Apr 06.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The vast majority of genome-wide association studies (GWASs) are performed in Europeans, and their transferability to other populations is dependent on many factors (e.g., linkage disequilibrium, allele frequencies, genetic architecture). As medical genomics studies become increasingly large and diverse, gaining insights into population history and consequently the transferability of disease risk measurement is critical. Here, we disentangle recent population history in the widely used 1000 Genomes Project reference panel, with an emphasis on populations underrepresented in medical studies. To examine the transferability of single-ancestry GWASs, we used published summary statistics to calculate polygenic risk scores for eight well-studied phenotypes. We identify directional inconsistencies in all scores; for example, height is predicted to decrease with genetic distance from Europeans, despite robust anthropological evidence that West Africans are as tall as Europeans on average. To gain deeper quantitative insights into GWAS transferability, we developed a complex trait coalescent-based simulation framework considering effects of polygenicity, causal allele frequency divergence, and heritability. As expected, correlations between true and inferred risk are typically highest in the population from which summary statistics were derived. We demonstrate that scores inferred from European GWASs are biased by genetic drift in other populations even when choosing the same causal variants and that biases in any direction are possible and unpredictable. This work cautions that summarizing findings from large-scale GWASs may have limited portability to other populations using standard approaches and highlights the need for generalized risk prediction methods and the inclusion of more diverse individuals in medical genomics.
[Mh] Termos MeSH primário: Grupos de Populações Continentais/genética
Predisposição Genética para Doença
[Mh] Termos MeSH secundário: Américas
Genética Médica
Genética Populacional
Haplótipos
Projeto Genoma Humano
Seres Humanos
Herança Multifatorial
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171007
[Lr] Data última revisão:
171007
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE


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[PMID]:28346599
[Au] Autor:West KM; Blacksher E; Burke W
[Ad] Endereço:Department of Bioethics and Humanities, University of Washington, Institute for Public Health Genetics, Seattle.
[Ti] Título:Genomics, Health Disparities, and Missed Opportunities for the Nation's Research Agenda.
[So] Source:JAMA;317(18):1831-1832, 2017 05 09.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Genômica/tendências
Disparidades nos Níveis de Saúde
Disparidades em Assistência à Saúde
[Mh] Termos MeSH secundário: Predisposição Genética para Doença
Projeto Genoma Humano
Seres Humanos
Pesquisa/tendências
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170328
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.3096


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[PMID]:28340351
[Au] Autor:Manolio TA; Fowler DM; Starita LM; Haendel MA; MacArthur DG; Biesecker LG; Worthey E; Chisholm RL; Green ED; Jacob HJ; McLeod HL; Roden D; Rodriguez LL; Williams MS; Cooper GM; Cox NJ; Herman GE; Kingsmore S; Lo C; Lutz C; MacRae CA; Nussbaum RL; Ordovas JM; Ramos EM; Robinson PN; Rubinstein WS; Seidman C; Stranger BE; Wang H; Westerfield M; Bult C
[Ad] Endereço:National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: manolio@nih.gov.
[Ti] Título:Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
[So] Source:Cell;169(1):6-12, 2017 Mar 23.
[Is] ISSN:1097-4172
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.
[Mh] Termos MeSH primário: Pesquisa Biomédica
Genômica
[Mh] Termos MeSH secundário: Animais
Análise Mutacional de DNA
Bases de Dados Genéticas
Doença/genética
Projeto Genoma Humano
Seres Humanos
Disseminação de Informação
Modelos Animais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170325
[St] Status:MEDLINE


  7 / 3764 MEDLINE  
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[PMID]:28335724
[Au] Autor:Silva M; Oliveira M; Vieira D; Brandão A; Rito T; Pereira JB; Fraser RM; Hudson B; Gandini F; Edwards C; Pala M; Koch J; Wilson JF; Pereira L; Richards MB; Soares P
[Ad] Endereço:Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield, HD1 3DH, UK.
[Ti] Título:A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersals.
[So] Source:BMC Evol Biol;17(1):88, 2017 Mar 23.
[Is] ISSN:1471-2148
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has been frequently connected to the so-called "Indo-Aryan invasions" from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time remains extremely controversial. South India, on the other hand, is dominated by Dravidian languages. India displays a high level of endogamy due to its strict social boundaries, and high genetic drift as a result of long-term isolation which, together with a very complex history, makes the genetic study of Indian populations challenging. RESULTS: We have combined a detailed, high-resolution mitogenome analysis with summaries of autosomal data and Y-chromosome lineages to establish a settlement chronology for the Indian Subcontinent. Maternal lineages document the earliest settlement ~55-65 ka (thousand years ago), and major population shifts in the later Pleistocene that explain previous dating discrepancies and neutrality violation. Whilst current genome-wide analyses conflate all dispersals from Southwest and Central Asia, we were able to tease out from the mitogenome data distinct dispersal episodes dating from between the Last Glacial Maximum to the Bronze Age. Moreover, we found an extremely marked sex bias by comparing the different genetic systems. CONCLUSIONS: Maternal lineages primarily reflect earlier, pre-Holocene processes, and paternal lineages predominantly episodes within the last 10 ka. In particular, genetic influx from Central Asia in the Bronze Age was strongly male-driven, consistent with the patriarchal, patrilocal and patrilineal social structure attributed to the inferred pastoralist early Indo-European society. This was part of a much wider process of Indo-European expansion, with an ultimate source in the Pontic-Caspian region, which carried closely related Y-chromosome lineages, a smaller fraction of autosomal genome-wide variation and an even smaller fraction of mitogenomes across a vast swathe of Eurasia between 5 and 3.5 ka.
[Mh] Termos MeSH primário: Genética Populacional
Migração Humana
[Mh] Termos MeSH secundário: Ásia Ocidental
Cromossomos Humanos Y
Clima
DNA Mitocondrial/genética
Feminino
Variação Genética
Estudo de Associação Genômica Ampla
Projeto Genoma Humano
Seres Humanos
Índia/etnologia
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170627
[Lr] Data última revisão:
170627
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170325
[St] Status:MEDLINE
[do] DOI:10.1186/s12862-017-0936-9


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[PMID]:28285768
[Au] Autor:Yao C; Joehanes R; Johnson AD; Huan T; Liu C; Freedman JE; Munson PJ; Hill DE; Vidal M; Levy D
[Ad] Endereço:The Framingham Heart Study, 73 Mt. Wayte Avenue, Framingham, MA 01702, USA; The Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA.
[Ti] Título:Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits.
[So] Source:Am J Hum Genet;100(4):571-580, 2017 Apr 06.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Identifying causal genetic variants and understanding their mechanisms of effect on traits remains a challenge in genome-wide association studies (GWASs). In particular, how genetic variants (i.e., trans-eQTLs) affect expression of remote genes (i.e., trans-eGenes) remains unknown. We hypothesized that some trans-eQTLs regulate expression of distant genes by altering the expression of nearby genes (cis-eGenes). Using published GWAS datasets with 39,165 single-nucleotide polymorphisms (SNPs) associated with 1,960 traits, we explored whole blood gene expression associations of trait-associated SNPs in 5,257 individuals from the Framingham Heart Study. We identified 2,350 trans-eQTLs (at p < 10 ); more than 80% of them were found to have cis-associated eGenes. Mediation testing suggested that for 35% of trans-eQTL-trans-eGene pairs in different chromosomes and 90% pairs in the same chromosome, the disease-associated SNP may alter expression of the trans-eGene via cis-eGene expression. In addition, we identified 13 trans-eQTL hotspots, affecting from ten to hundreds of genes, suggesting the existence of master genetic regulators. Using causal inference testing, we searched causal variants across eight cardiometabolic traits (BMI, systolic and diastolic blood pressure, LDL cholesterol, HDL cholesterol, total cholesterol, triglycerides, and fasting blood glucose) and identified several cis-eGenes (ALDH2 for systolic and diastolic blood pressure, MCM6 and DARS for total cholesterol, and TRIB1 for triglycerides) that were causal mediators for the corresponding traits, as well as examples of trans-mediators (TAGAP for LDL cholesterol). The finding of extensive evidence of genome-wide mediation effects suggests a critical role of cryptic gene regulation underlying many disease traits.
[Mh] Termos MeSH primário: Doenças Cardiovasculares/genética
Estudo de Associação Genômica Ampla
[Mh] Termos MeSH secundário: Doenças Cardiovasculares/sangue
Estudos Clínicos como Assunto
Feminino
Perfilação da Expressão Gênica
Projeto Genoma Humano
Seres Humanos
Masculino
Polimorfismo de Nucleotídeo Único
Mapas de Interação de Proteínas
Locos de Características Quantitativas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171125
[Lr] Data última revisão:
171125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170314
[St] Status:MEDLINE


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[PMID]:28237646
[Au] Autor:Chien MN; Yang PS; Lee JJ; Wang TY; Hsu YC; Cheng SP
[Ad] Endereço:Division of Endocrinology and Metabolism, Department of Internal Medicine, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan.
[Ti] Título:Recurrence-associated genes in papillary thyroid cancer: An analysis of data from The Cancer Genome Atlas.
[So] Source:Surgery;161(6):1642-1650, 2017 Jun.
[Is] ISSN:1532-7361
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Recurrence of papillary thyroid cancer is not uncommon, but incorporating clinicopathologic parameters to predict recurrence is suboptimal. The aim of this study was to identify systemically recurrence-associated genes using The Cancer Genome Atlas RNA sequencing database. METHODS: A total of 504 patients with transcriptome sequencing data of the primary neoplasm were included in this study. High and low levels of expression of each gene were defined by median splits. Differences in recurrence-free survival were compared using Kaplan-Meier curves and log-rank tests. Recurrence-associated genes were subjected to functional enrichment analyses with Kyoto Encyclopedia of Genes and Genomes annotation databases and Ingenuity Pathway Analysis. RESULTS: We found that 1,807 genes were associated with recurrence-free survival. There were 676 genes of which high expression was associated with a greater risk of recurrence. These genes were enriched in pathways involved in cell cycle regulation and DNA repair. Among 1,131 genes of which low expression was associated with recurrence, Kyoto Encyclopedia of Genes and Genomes-annotated functions were metabolism, calcium signaling, glycan biosynthesis, and the Notch signaling pathway. Canonical pathways identified by Ingenuity Pathway Analysis included RXR function, nitric oxide signaling, interleukin-8 signaling, and nutrient sensing. In addition, low expression of the majority of thyroid differentiation genes was associated with a significantly less recurrence-free survival. CONCLUSION: Upregulation of cell cycle-regulating and DNA repair genes appears to have a negative impact on recurrence-free survival in patients with papillary thyroid cancer. Furthermore, recurrence is associated with thyroid dedifferentiation.
[Mh] Termos MeSH primário: Reparo do DNA/genética
Perfilação da Expressão Gênica
Predisposição Genética para Doença/epidemiologia
Recidiva Local de Neoplasia/genética
Neoplasias da Glândula Tireoide/genética
Tireoidectomia/métodos
[Mh] Termos MeSH secundário: Idoso
Estudos de Coortes
Bases de Dados Factuais
Intervalo Livre de Doença
Feminino
Regulação Neoplásica da Expressão Gênica
Projeto Genoma Humano
Seres Humanos
Incidência
Masculino
Meia-Idade
Recidiva Local de Neoplasia/epidemiologia
Prognóstico
Estudos Retrospectivos
Medição de Risco
Transdução de Sinais/genética
Análise de Sobrevida
Neoplasias da Glândula Tireoide/patologia
Neoplasias da Glândula Tireoide/cirurgia
Tireoidectomia/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170227
[St] Status:MEDLINE


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[PMID]:28209900
[Au] Autor:Chen L; Liu P; Evans TC; Ettwiller LM
[Ad] Endereço:New England Biolabs Inc., 240 County Road, Ipswich, MA 01938-2723, USA.
[Ti] Título:DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification.
[So] Source:Science;355(6326):752-756, 2017 02 17.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in somatic cells generate a heterogeneous genomic population and may result in serious medical conditions. Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate that cell-specific variants affect a number of phenotypes and pathologies. Here, we show that mutagenic damage accounts for the majority of the erroneous identification of variants with low to moderate (1 to 5%) frequency. More important, we found signatures of damage in most sequencing data sets in widely used resources, including the 1000 Genomes Project and The Cancer Genome Atlas, establishing damage as a pervasive cause of sequencing errors. The extent of this damage directly confounds the determination of somatic variants in these data sets.
[Mh] Termos MeSH primário: Artefatos
Dano ao DNA
Análise Mutacional de DNA/normas
Variação Genética
Neoplasias/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA/estatística & dados numéricos
Projeto Genoma Humano
Seres Humanos
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1126/science.aai8690



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