Dan Vitale, Mathew J Koretsky, Nicole Kuznetsov, Samantha Hong, Jessica Martin, Mikayla James, Mary B Makarious, Hampton Leonard, Hirotaka Iwaki, Faraz Faghri, Cornelis Blauwendraat, Andrew B Singleton, Yeajin Song, Kristin Levine, Ashwin Ashok Kumar Sreelatha, Zih-Hua Fang, Mike Nalls
{"title":"GenoTools:用于高效基因型数据质量控制和分析的开源 Python 软件包。","authors":"Dan Vitale, Mathew J Koretsky, Nicole Kuznetsov, Samantha Hong, Jessica Martin, Mikayla James, Mary B Makarious, Hampton Leonard, Hirotaka Iwaki, Faraz Faghri, Cornelis Blauwendraat, Andrew B Singleton, Yeajin Song, Kristin Levine, Ashwin Ashok Kumar Sreelatha, Zih-Hua Fang, Mike Nalls","doi":"10.1093/g3journal/jkae268","DOIUrl":null,"url":null,"abstract":"<p><p>GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control (QC), and genome-wide association studies (GWAS) capabilities into efficient pipelines. By tracking samples, variants, and quality-specific measures throughout fully customizable pipelines, users can easily manage genetics data for large and small studies. GenoTools' \"Ancestry\" module renders highly accurate predictions, allowing for high-quality ancestry-specific studies, and enables custom ancestry model training and serialization specified to the user's genotyping or sequencing platform. As the genotype processing engine that powers several large initiatives, including the NIH's Center for Alzheimer's and Related Dementias (CARD) and the Global Parkinson's Genetics Program (GP2), GenoTools was used to process and analyze the UK Biobank and major Alzheimer's Disease (AD) and Parkinson's Disease (PD) datasets with over 400,000 genotypes from arrays and 5,000 whole genome sequencing (WGS) samples and has led to novel discoveries in diverse populations. It has provided replicable ancestry predictions, implemented rigorous QC, and conducted genetic ancestry-specific GWAS to identify systematic errors or biases through a single command. GenoTools is a customizable tool that enables users to efficiently analyze and scale genotyping and sequencing (WGS and exome) data with reproducible and scalable ancestry, QC, and GWAS pipelines.</p>","PeriodicalId":12468,"journal":{"name":"G3: Genes|Genomes|Genetics","volume":" ","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis.\",\"authors\":\"Dan Vitale, Mathew J Koretsky, Nicole Kuznetsov, Samantha Hong, Jessica Martin, Mikayla James, Mary B Makarious, Hampton Leonard, Hirotaka Iwaki, Faraz Faghri, Cornelis Blauwendraat, Andrew B Singleton, Yeajin Song, Kristin Levine, Ashwin Ashok Kumar Sreelatha, Zih-Hua Fang, Mike Nalls\",\"doi\":\"10.1093/g3journal/jkae268\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control (QC), and genome-wide association studies (GWAS) capabilities into efficient pipelines. 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GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis.
GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control (QC), and genome-wide association studies (GWAS) capabilities into efficient pipelines. By tracking samples, variants, and quality-specific measures throughout fully customizable pipelines, users can easily manage genetics data for large and small studies. GenoTools' "Ancestry" module renders highly accurate predictions, allowing for high-quality ancestry-specific studies, and enables custom ancestry model training and serialization specified to the user's genotyping or sequencing platform. As the genotype processing engine that powers several large initiatives, including the NIH's Center for Alzheimer's and Related Dementias (CARD) and the Global Parkinson's Genetics Program (GP2), GenoTools was used to process and analyze the UK Biobank and major Alzheimer's Disease (AD) and Parkinson's Disease (PD) datasets with over 400,000 genotypes from arrays and 5,000 whole genome sequencing (WGS) samples and has led to novel discoveries in diverse populations. It has provided replicable ancestry predictions, implemented rigorous QC, and conducted genetic ancestry-specific GWAS to identify systematic errors or biases through a single command. GenoTools is a customizable tool that enables users to efficiently analyze and scale genotyping and sequencing (WGS and exome) data with reproducible and scalable ancestry, QC, and GWAS pipelines.
期刊介绍:
G3: Genes, Genomes, Genetics provides a forum for the publication of high‐quality foundational research, particularly research that generates useful genetic and genomic information such as genome maps, single gene studies, genome‐wide association and QTL studies, as well as genome reports, mutant screens, and advances in methods and technology. The Editorial Board of G3 believes that rapid dissemination of these data is the necessary foundation for analysis that leads to mechanistic insights.
G3, published by the Genetics Society of America, meets the critical and growing need of the genetics community for rapid review and publication of important results in all areas of genetics. G3 offers the opportunity to publish the puzzling finding or to present unpublished results that may not have been submitted for review and publication due to a perceived lack of a potential high-impact finding. G3 has earned the DOAJ Seal, which is a mark of certification for open access journals, awarded by DOAJ to journals that achieve a high level of openness, adhere to Best Practice and high publishing standards.