Makale detayı · 2022
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
- Yıl
- 2022
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı Cell
- Katalog eşleşmesi (ISSN) Cell
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
OpenAlex · İngilizce
The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome sequencing (WGS) data consented for public distribution without access or use restrictions. The final, phase 3 release of the 1kGP included 2,504 unrelated samples from 26 populations and was based primarily on low-coverage WGS. Here, we present a high-coverage 3,202-sample WGS 1kGP resource, which now includes 602 complete trios, sequenced to a depth of 30X using Illumina. We performed single-nucleotide variant (SNV) and short insertion and deletion (INDEL) discovery and generated a comprehensive set of structural variants (SVs) by integrating multiple analytic methods through a machine learning model. We show gains in sensitivity and precision of variant calls compared to phase 3, especially among rare SNVs as well as INDELs and SVs spanning frequency spectrum. We also generated an improved reference imputation panel, making variants discovered here accessible for association studies.
Konular
Atıflar
OpenAlex cited_by_count. WoS veya Scopus atıf sayısı değildir; o kaynaklar için ayrı kolon yoktur.
1.088 atıf
OpenAlex cited_by_count (önbellek / veritabanı)
Yerel katalogda bu makaleye atıf yapan 17 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).
- Complex genetic variation in nearly complete human genomes 2025
- Structural variation in 1,019 diverse humans based on long-read sequencing 2025
- Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project 2024
- ECOLE: Learning to call copy number variants on whole exome sequencing data 2024
- Polishing copy number variant calls on exome sequencing data via deep learning 2022
- Evaluation of genotype imputation using Glimpse tools on low coverage ancient DNA 2024
- Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets. 2025
- Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets 2025
- LYCEUM: Learning to call copy number variants on low coverage ancient genomes 2024
- CHALLENGER: Detecting Copy Number Variants in Challenging Regions Using Whole Genome Sequencing Data 2025