Alternative graphical representations of genotypes in a pedigree

Three representations of the conditional independences due toMendelian segregation of genes in a pedigree are proposed. Thecomputational costs of performing calculations using the techniqueof peeling with each of these representations is compared byconsidering the weights of triangulations of the graph producedby each representation.     

Simulating realistic zero loop pedigrees using a bipartite Prufer code and graphical modelling.

Graph algorithms previously developed by the authors are adapted to simulate pedigrees similar to those used in genetic linkage studies which associate disease phenotypes with specific genomic locations. Pedigrees are chosen uniformly at random from the set of those with specified numbers of individuals and matings and which contain no loops. Summary statistics from pedigrees generated in this way can be used to check real pedigrees for anomalies due to biased sampling or phenotypic effects on the pedigree structure.     

Effects of hypothalamic knife cuts on the ingestive responses to glucose and insulin.

Parasagittal knife cuts through the perifornical hypothalamus either medial or lateral to the fornix produced hyperphagia and obesity and altered the rat's ingestive responses to dilute glucose solutions. The lateral knife cut rats drank less dilute glucose solution under both nondeprived and food deprived conditions and displayed less of a feeding suppressive response to glucose ingestion compared to controls. The lateral cut rats were also deficient in their feeding response to insulin-induced hypoglycemia, although their altered sensitivity to glucose and insulin did not appear to be causally related. The medial knife cuts decreased the responsivity to glucose, but less so than the lateral cuts, and did not alter the ingestive response to insulin. Both the medial and lateral knife cuts did not appear to change the rat's responsivity to concentrated blucose solutions. The neuroanatomical and functional nature of the disorder responsible for these effects and its relationship to the hyper-phagia-obesity syndrome are discussed.     

Changes in estrogen and progestin receptor binding resulting from retrochiasmatic knife cuts

Retrochiasmatic frontolateral knife cuts (FLC) or sham operations (Sham) were performed with a Halasz-type knife. All animals were primed with estrogen plus 0.5 mg progesterone (P) and tested for lordosis both before and after surgery. Two weeks after the last test they received estradiol (E₂) in Silastic capsules and were sacrificed 2 days later for determination of either nuclear estrogen receptors or cytosol progestin receptor binding in brain and pituitary (PIT). Rats which had received FLC showed significantly lower lordosis quotients relative to Shams, and relative to their own pre-surgery scores. Nuclear E₂-receptor binding was significantly reduced in the hypothalamus (HYPO) following FLC, but not in preoptic area (POA) or PIT. No changes in cytosol P-receptor binding were observed in HYPO, POA or PIT following FLC. Our results suggest a positive correlation between the number of hypothalamic E₂-receptors and the capacity to display lordosis, and emphasize the importance of anterolateral connections to the HYPO for the progesterone-induced facilitation of lordosis.     

Hypothalamic obesity following knife cuts that minimize arterial damage

Parasagittal knife cuts that separate the medial hypothalamus from the lateral hypothalamus produce obesity. It has been assumed that the obesity results from the cutting of axons. However, these cuts also appear to sever arteries. The present study demonstrates that the severing of arteries is not necessary for the production of obesity. Knife cuts were placed at an angle so as to separate the medial hypothalamus from the lateral hypothalamus with minimal damage to arteries. These rats overate and became obese just as rapidly as rats with parasagittal cuts.     

基因组序列CGR图形表示的多重分形分析

为了更好地描述基因组序列CGR(chaos-game representation)图形的分形特征,引入多重分形理论进行分析。通过研究3种概率集对标度不变性范围的影响,选取出标度不变性最好的概率集,计算光滑的广义维数谱和多重分形谱。结果表明:以相对概率组成概率集时标度不变性最好,而且标度不变性随尺度变化可被分为3个不同的区域,这反映了基因组序列不同长度的序列片段有不同的分布规律。可见,多重分形方法可以用于描述基因组序列CGR图形的分形特征。     

基于中医诊疗指南的冠心病知识图谱构建

目的：运用知识图谱技术将诊疗指南中的辨证论治过程构建为可视化的知识图谱,通过程序将输入临床表现到输出相应的中医诊断和处方用药的过程进行可视化,为中医医师直观地显示诊疗过程和数据关系,为中医药诊治冠心病的标准化和规范化提供助力,为中医药诊疗的传承和推广提供技术依托。方法：采用Neo4j联合py2neo知识图谱技术,以中华中医药学会心血管病分会发布的《冠心病稳定型心绞痛中医诊疗指南》为模式构建知识图谱,通过编程实现以临床表现的输入调用知识图谱,可视化展示冠心病稳定型心绞痛的中医规范化诊疗过程。结果：使用py2neo库调用Neo4j,从诊疗指南中提取整理好的结构化数据导入Neo4j,构建基于冠心病稳定型心绞痛中医诊疗指南的知识图谱,且该知识图谱支持图数据库查询功能。结论：该研究结合目前中医诊疗经验传承中存在的问题,针对冠心病稳定型心绞痛这个单一病种,笔者提出了一种基于凝结了中医行业专家经验和循证证据所形成的诊疗指南,实现基于中医诊疗指南和专家经验的知识图谱可视化展示过程,为直观地展现从症状输入到遣方用药的整个中医诊疗过程和辅助中医经验传承提供助力,为中医的标准化和规范化诊疗提供了一种可参考的...     

匹配在观察性研究中的作用——有向无环图视角

匹配是观察性研究中选择研究对象的一种常用方法,具有控制混杂因素、提高统计效率等作用,但其控制混杂因素的作用在不同观察性研究中并不一致,匹配在队列研究中能够消除匹配变量的混杂偏倚,但在病例对照研究中匹配本身并不能消除混杂偏倚。在匹配性病例对照研究选择匹配变量时,研究者可能并不能准确判断该变量是否为混杂变量,若误将真实情况为非混杂因素的变量进行匹配,则会形成过度匹配,造成统计效率下降或引入难以避免的偏倚或增加工作量等;若将真实情况为混杂因素的变量遗漏不予匹配,则会造成混杂偏倚。有向无环图是一种直观的展示不同流行病学研究设计、变量间复杂因果关系的可视化图形语言。本文从有向无环图视角分析匹配在不同观察性研究设计中的作用、匹配性病例对照研究中欲匹配变量的选择标准制定,为今后流行病学研究设计提供一定的参考建议。