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DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.

DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.

期刊: Genetic epidemiology 日期: 2026-07-01 PMID: 42363641 DOI: 10.1002/gepi.70048 浏览: 39
作者: Baker JT, Chen HH, Evans GF, Scartozzi AC, Bohlender RJ, Huff CD, Wells QS, Samuels DC, Below JE
JT, B., HH, C., GF, E., AC, S., RJ, B., CD, H., QS, W., DC, S., & JE, B. (2026). DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.. Genetic epidemiology. https://doi.org/10.1002/gepi.70048
JT B, HH C, GF E, AC S, RJ B, CD H, et al. DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.. Genetic epidemiology. 2026; doi: 10.1002/gepi.70048
JT B, HH C, GF E, et al. DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.[J]. Genetic epidemiology. 2026. DOI: 10.1002/gepi.70048.
@article{jt2026,
  author = {Baker JT and Chen HH and Evans GF and Scartozzi AC and Bohlender RJ and Huff CD and Wells QS and Samuels DC and Below JE},
  title = {DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.},
  journal = {Genetic epidemiology},
  year = {2026},
  doi = {10.1002/gepi.70048},
  note = {PMID: 42363641},
}
TY  - JOUR
AU  - Baker JT
AU  - Chen HH
AU  - Evans GF
AU  - Scartozzi AC
AU  - Bohlender RJ
AU  - Huff CD
AU  - Wells QS
AU  - Samuels DC
AU  - Below JE
TI  - DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.
T2  - Genetic epidemiology
PY  - 2026
DO  - 10.1002/gepi.70048
AN  - PMID:42363641
ER  - 

摘要

There is a need for genetic analytical methods that integrate multi-individual identity-by-descent (IBD) tools with phenotypic enrichment testing to discover novel shared haplotypes contributing to disease traits. Existing tools are designed to identify IBD sharing and leave interpretation and phenotype association tests to further analyses. Here we present Distant Relatedness for Identification and Variant Evaluation (DRIVE) v3, a python command-line interface tool that identifies networks of participants who share an identical haplotype at a given genomic location. Given phenotypic data, DRIVE additionally estimates significant enrichment of dichotomous traits within networks. DRIVE is designed for efficient use across large-scale genetic data resources, featuring a versatile application programming interface and a backend structure designed for flexible integration into existing analytical pipelines. In this work, we describe the implementation of DRIVE v3 and illustrate two applications of the tool to an autosomal dominant condition and to an autosomal recessive condition, cardiomyopathy and cystic fibrosis, respectively. These applications highlight the substantial performance improvements between v1 and v3 and demonstrate practically how the newer features of DRIVE such as the enrichment test can be used in the interpretation of the identified networks.

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