National human genome projects: an update and an agenda
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.
Abstract
Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.
참고문헌 (20)
- Abecasis GR, "A map of human genome variation from populationscale sequencing", 1000 Genomes Project Consortium, 467, pp.1061~1073 (2010)
- Boomsma DI, "The Genome of the Netherlands: design, and project goals", Eur J Hum Genet, 22, pp.221~227 (2014)
- Chheda H, "Wholegenome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom", Eur J Hum Genet, 25, pp.477~484 (2017)
- Humphreys K, "The genetic structure of the Swedish population", PLoS One, 6, pp.225~247 (2011), PLoS One
- Narasimhan VM, "Health and population effects of rare gene knockouts in adult humans with related parents", Science, 352, pp.474~477 (2016)
- Sanna S, "Fine mapping of five loci associated with lowdensity lipoprotein cholesterol detects variants that double the explained heritability", PLoS Genet, 7, pp.1002198~ (2011), PLoS Genet
- Lee S, "Rarevariant association analysis: study designs and statistical tests", Am J Hum Genet, 95, pp.523~ (2014), Am J Hum Genet
- Sulem P, "Identification of a large set of rare complete human knockouts", Nat Gene, (47), pp.448~452 (2015)
- "Letters from Iceland", Nat Genet, 47, pp.425~ (2015), Nat Genet
- Genome of the Netherlands Consortium, "Wholegenome sequence variation, population structure and demographic history of the Dutch population", Nat Genet, 46, pp.818~825 (2014), Nat Genet
- Gilissen C, "Genome sequencing identifies major causes of severe intellectual disability", Nature, 511, pp.344~347 (2014)
- UK10K Consortium, "UK10K project identifies rare variants in health and disease", Nature, 526, pp.82~90 (2015)
- Boyd A, "Cohort profile: the ‘children of the 90s’the index offspring of the Avon Longitudinal Study of Parents and Children", J Epidemiol, 42, pp.111~127 (2013)
- Moayyeri A, "The UK Adult Twin Registry", Twin Res Hum Genet, 16, pp.144~149 (2013)
- Huang J, "Improved imputation of lowfrequency and rare variants using the UK10K haplotype reference panel", Nat Commun, pp.8111~ (2015)
- Nagasaki M, "Rare variant discovery by deep wholegenome sequencing of 1,070 Japanese individuals", Nat Commun, pp.8018~ (2015)
- Magnusson PK, "The Swedish Twin Registry: establishment of a biobank and other recent developments", Twin Res Hum Genet, 16, pp.317~329 (2013)
- Johansson A, "Common variants in the JAZF1 gene associated with height identified by linkage and genomewide association analysis", Hum Mol Genet, 18, pp.373~380 (2009)
- Lek M, "Analysis of proteincoding genetic variation in 60,706 humans", Nature, 536, pp.285~291 (2016)
- Zook JM, "Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls", Nat Biotechnol, 32, pp.246~251 (2014), Nat Biotechnol
