elmahyai/awesome-variant-annotation

Awesome-Variant-Annotation

1. 1000 Genomes link

Sudmant, P., Rausch, T., Gardner, E. et al. An integrated map of structural variation in 2,504 human genomes. Nature 526, 75–81 (2015).

The goal of the 1000 Genomes Project was to find most genetic variants with frequencies of at least 1% in the populations studied. It was the first project to sequence the genomes of a large number of people, to provide a comprehensive resource on human genetic variation. Data from the 1000 Genomes Project was quickly made available to the worldwide scientific community through freely accessible public databases.

"oneKg":{
   "allAf":0.200879,
   "afrAf":0.210287,
   "amrAf":0.139769,
   "easAf":0.275794,
   "eurAf":0.181909,
   "sasAf":0.173824,
   "allAn":5008,
   "afrAn":1322,
   "amrAn":694,
   "easAn":1008,
   "eurAn":1006,
   "sasAn":978,
   "allAc":1006,
   "afrAc":278,
   "amrAc":97,
   "easAc":278,
   "eurAc":183,
   "sasAc":170
}

├── world
│   ├── Egypt
        ├── Cairo
        └── Alexandria
│   ├── America
│   └── Germany

fsdgsdg

├── 220526_A01370_0007_AH2725DSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220530_A01370_0008_BH2C5HDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220616_A01370_0009_BH5TNHDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220621_A01370_0010_AH5VJMDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220623_A01372_0009_BHGK25DSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220703_A01370_0011_AHGK23DSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220705_A01372_0011_BHGJVTDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220807_A01370_0017_AHGJM5DSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220809_A01370_0018_BHGKCCDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220811_A01370_0019_AHGJKHDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220815_A01370_0020_AHGK2KDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
├── 220815_A01370_0021_BHGK5WDSX3
│   ├── Annotated_JSONs
│   ├── CNV
│   ├── SV
│   └── VCF
└── 220817_A01370_0022_AHGJ3NDSX3
    ├── Annotated_JSONs
    ├── CNV
    ├── SV
    └── VCF