PDF(Pubmed)
Abstract：
UNASSIGNED: Large-scale family pedigrees are commonly used across medical, evolutionary, and forensic genetics. These pedigrees are tools for identifying genetic disorders, tracking evolutionary patterns, and establishing familial relationships via forensic genetic identification. However, there is a lack of software to accurately simulate different pedigree structures along with genomes corresponding to those individuals in a family pedigree. This limits simulation-based evaluations of methods that use pedigrees.
UNASSIGNED: We have developed a python command-line-based tool called py_ped_sim that facilitates the simulation of pedigree structures and the genomes of individuals in a pedigree. py_ped_sim represents pedigrees as directed acyclic graphs, enabling conversion between standard pedigree formats and integration with the forward population genetic simulator, SLiM. Notably, py_ped_sim allows the simulation of varying numbers of offspring for a set of parents, with the capacity to shift the distribution of sibship sizes over generations. We additionally add simulations for events of misattributed paternity, which offers a way to simulate half-sibling relationships. We validated the accuracy of our software by simulating genomes onto diverse family pedigree structures, showing that the estimated kinship coefficients closely approximated expected values.
UNASSIGNED: py_ped_sim is a user-friendly and open-source solution for simulating pedigree structures and conducting pedigree genome simulations. It empowers medical, forensic, and evolutionary genetics researchers to gain deeper insights into the dynamics of genetic inheritance and relatedness within families.
UNASSIGNED: We have developed a python command-line-based tool called py_ped_sim that facilitates the simulation of pedigree structures and the genomes of individuals in a pedigree. py_ped_sim represents pedigrees as directed acyclic graphs, enabling conversion between standard pedigree formats and integration with the forward population genetic simulator, SLiM. Notably, py_ped_sim allows the simulation of varying numbers of offspring for a set of parents, with the capacity to shift the distribution of sibship sizes over generations. We additionally add simulations for events of misattributed paternity, which offers a way to simulate half-sibling relationships. We validated the accuracy of our software by simulating genomes onto diverse family pedigree structures, showing that the estimated kinship coefficients closely approximated expected values.
UNASSIGNED: py_ped_sim is a user-friendly and open-source solution for simulating pedigree structures and conducting pedigree genome simulations. It empowers medical, forensic, and evolutionary genetics researchers to gain deeper insights into the dynamics of genetic inheritance and relatedness within families.
摘要：
■大型家庭谱系通常用于整个医疗领域，进化，和法医遗传学。这些家谱是识别遗传疾病的工具，跟踪进化模式，并通过法医遗传鉴定建立家族关系。然而,缺乏软件来准确地模拟不同的谱系结构以及对应于家族谱系中那些个体的基因组。这限制了使用家谱的方法的基于模拟的评估。
■我们开发了一种名为py_ped_sim的基于python命令行的工具，该工具有助于模拟谱系结构和谱系中个体的基因组。py_ped_sim将谱系表示为有向无环图，实现标准谱系格式之间的转换和与正向种群遗传模拟器的整合，SLiM。值得注意的是,py_ped_sim允许模拟一组父母的不同数量的后代，有能力在几代人之间改变同胞规模的分布。我们还增加了亲子关系错误事件的模拟，它提供了一种模拟半兄弟姐妹关系的方法。我们通过将基因组模拟到不同的家族谱系结构上来验证我们软件的准确性，表明估计的亲属关系系数与期望值非常接近。
■py_ped_sim是一种用户友好且开源的解决方案，用于模拟谱系结构并进行谱系基因组模拟。它赋予医疗权力，法医,和进化遗传学研究人员更深入地了解家庭内遗传遗传和亲缘关系的动态。
■我们开发了一种名为py_ped_sim的基于python命令行的工具，该工具有助于模拟谱系结构和谱系中个体的基因组。py_ped_sim将谱系表示为有向无环图，实现标准谱系格式之间的转换和与正向种群遗传模拟器的整合，SLiM。值得注意的是,py_ped_sim允许模拟一组父母的不同数量的后代，有能力在几代人之间改变同胞规模的分布。我们还增加了亲子关系错误事件的模拟，它提供了一种模拟半兄弟姐妹关系的方法。我们通过将基因组模拟到不同的家族谱系结构上来验证我们软件的准确性，表明估计的亲属关系系数与期望值非常接近。
■py_ped_sim是一种用户友好且开源的解决方案，用于模拟谱系结构并进行谱系基因组模拟。它赋予医疗权力，法医,和进化遗传学研究人员更深入地了解家庭内遗传遗传和亲缘关系的动态。
