Genome of Homo sapiens

From Genomics and Precision Medicine #

Genome

• 30% is repeats, SINE, LINE
• 5% conserved accross multiple species
• 1.5% protein coding genes
• 80% may be functional (ENCODE project)

Gene

• Average size: 20kb, 8 exons, but highly variable
• 22,000 genes
• Alternative splicing (90% genes of human genome)

표준 유전체 데이터 (from Human Genome Project) #

• GRCh38 / hg38 (2013-12-23 released)
• GRCh37 / hg19

참고

• New download files and FTP directories for genome assemblies 2019-12-05

한국인(Korea) 유전체 #

자료

• KOREF: 한국인 표준 유전체
• DisALF: GWAS로 확인한 질병 연관 변이 정보
• KRGDB: 한국인 참조 유전체 데이터베이스 - 1722명에 대한 대립유전자 빈도정보를 확인할 수 있다.

논문

• Findings of a 1303 Korean whole-exome sequencing study Experimental & Molecular Medicine 2017-07-14

k=5 일 때 한중일 하나. k=7 일때 중국 분리되며 한국은 일본과 중국이 섞인 형태. k=11 일 때, 특별한 또 다른 특징이 섞임

• Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population Scientific Reports 2017-06-27

관련 링크 #

기사 #

• The most popular genes in the human genome Nature 2017-11-22: Top 10 - TP53, TNF, EGFR, VEGFA, APOE, IL6, TGFB1, MTHER, ESR1, AKT1
• 인체 박테리아 수 100조? 40여년 전 부정확한 어림셈 2016-01-12: 인간의 세포 수는 30조개, 공생하는 미생물 세포 수는 39조개
• Team reduces the size of the human genome to 19,000 genes Proteomics 2014-07-??: 실험만으로 코딩이 안된다고 하면 안될텐데.

논문 #

• A map of constrained coding regions in the human genome Nature Genetics 2018-12-10: 수천명의 유전체 데이터로부터 잦은 코딩 변이 영역 지도
• The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design European Journal of Human Genetics 2018-10-24: 건강한 노인 4000명 유전체 데이터 공개
• The population genetics of human disease: The case of recessive, lethal mutations PLOS Genetics 2017-09-28
• Diversity in non-repetitive human sequences not found in the reference genome Nature Genetics 2017-02-27: non-repeptitive, non-reference (NRNR) 서열이 다양하게 존재하고, 질병과도 연관되어 있음
• Deep Sequencing of 10,000 Human Genomes 2016-07-01: Crag Venter 팀에서 공개한 일만명 유전체
• Genome-wide patterns and properties of de novo mutations in humans Nature Genetics 2015-05-18

포스팅 #

• Game of Genomes: Game of Thrones 패러디

Incoming Links #

[Medical Scholarly Articles] About (MedicalScholarlyArticle 0) #

• Human genetic variation database, a reference database of genetic variations in the Japanese population
• Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Related Datasets (Dataset 1) #

• ExAC
• Human Genome Project
• Kaviar
• dbNSFP
• gnomeAD
• 한국인칩

Related Articles (Article 2) #

• ARHGAP11B
• Chromosome
• Gene
• Human evolution
• Human leukocyte antigen
• Microbiome
• Microsatellite
• Nanopore sequencing
• Receptor tyrosine kinase
• X-inactivation

Related Books (Book 3) #

• Guns, Germs, and Steel

Related People (Person 4) #

• Charles Lee

[Software Applications] About (SoftwareApplication 5) #

• Circa

Related Education Events (EducationEvent 6) #

• 2015 통계유전학워크숍
• Genomics and Precision Medicine

[Datasets] About (Dataset 7) #

• 1000 Genomes Project
• ENCODE
• GWAS Catalog
• Human Genome Project

[Web Pages] About (WebPage 8) #

• ENCODE

Related Web Pages (WebPage 9) #

• DGV

Related Codes (Code 10) #

• BWA
• Bowtie

Suggested Pages #

• 0.163 Reference-guided alignment
• 0.125 Kinetochore
• 0.098 Linkage disequilibrium
• 0.083 Chromosome instability
• 0.057 Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown
• 0.043 WikiGenes
• 0.039 Microsatellite instability
• 0.036 Challenges in analysis and interpretation of microsatellite data for population genetic studies
• 0.030 Gut microbiota
• 0.027 BED
• More suggestions...