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摘要： This study examines the history of machine learning in the second half of the twentieth century. The disunified forms of machine learning from the 1950s until the 1990s expanded what constituted “legitimate” and “efficacious” descriptions of society and physical reality, by using computer learning to accommodate the variability of data and to spur creative and original insights. By the early 1950s researchers saw “machine learning” as a solution for handling practical classification tasks involving uncertainty and variability; a strategy for producing original, creative insights in both science and society; and a strategy for making decisions in new contexts and new situations when no causal explanation or model was available. Focusing heavily on image classification and recognition tasks, pattern recognition researchers, building on this earlier learning tradition from the mid-1950s to the late-1980s, equated the idea of “learning” in machine learning with a program’s capacity to identify what was “significant” and to redefine objectives given new data in “ill-defined” systems. Classification, for these researchers, encompassed individual pattern recognition problems, the process of scientific inquiry, and, ultimately, all subjective human experience: they viewed all these activities as specific instances of generalized statistical induction. In treating classification as generalized induction, these researchers viewed pattern recognition as a method for acting in the world when you do not understand it. Seeing subjectivity and sensitivity to “contexts” as a virtue, pattern recognition researchers distinguished themselves from the better-known artificial intelligence community by emphasizing values and assumptions they necessarily “smuggled in” to their learning programs. Rather than a bias to be removed, the explicit contextual subjectivity of machine learning, including its sensitivity to the idiosyncrasies of its training data, justified its use from the 1960s t

关键词： 遗传学  

ISBN: (纸本)9787313240491

摘要： 本书共9章，第1章主要论述了遗传学在人类丰衣足食、安居乐业、健康长寿、天下太平等方面所起的作用，第2章为遗传学基础，第3-8章分别论述了遗传学与品种培育、遗传学与人类疾病、遗传学与医药健康、遗传学与生殖优生、遗传学与法律伦理、遗传学与环境保护等方面的应用，第9章为延伸阅读。

关键词： Gene fusion   MEF2D-BCL9   Precursor cell lymphoblastic leukemia-lymphoma   RNA   Sequence analysis  

摘要： Objective To investigate the molecular genetic and clinical characteristics of MEF2D - BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia (B-ALL), and to provide the reference for the diagnosis and treatment of the disease. Methods The medical record and experimental examination data of a 18 - year - old female MEF2D - BCL9 fusion gene - positive B - ALL patient were retrospectively analyzed. The clinical manifestations and biological characteristics of MEF2D - BCL9 fusion gene - positive B - ALL were summarized. Results This 18-year-old female patient was treated in a local hospital in December 2018 and was diagnosed as B-ALL. She achieved complete remission after chemotherapy and recurred at 6 months after the initial onset, and then she was admitted to Hebei Yanda Ludaopei Hospital in the 9 months after the initial onset. MEF2D - BCL9 fusion gene was detected through RNA - sequencing (RNA - seq) and verified by using polymerase chain reaction and Sanger sequencing. Bone marrow cell morphology was similar to mature B cells with vacuoles but without characteristic chromosome karyotype abnormalities. The patient achieved remission after VLD regimen chemotherapy, chimeric antigen receptor T-cell (CAR-T) therapy and bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT). She has maintained complete remission for 2 years at the last follow-up in February 2022. Conclusions MEF2D-BCL9 fusion gene-positive B-ALL is characterized with high risk, early relapse and poor prognosis. These patients may benefit from CAR-T and allo-HSCT. It further emphasizes the importance of taking MEF2D - BCL9 fusion gene into the detection or identification by using RNA-seq, particularly for those newly diagnosed B-ALL patients in children and adolescents with specific bone marrow morphology. © 2022 Chinese Medical Journal Publishing House Co. Ltd. All rights reserved.

摘要： Behavioral genetic analyses have not demonstrated robust, unique, genetic correlates of hippocampal subregion volume. The following study is the first population-based investigation of a) hippocampal longitudinal axis genetic factors b) hippocampal transverse axis genetic factors using both T1 and T2 MRI images and c) differences in the genetic components of hippocampal volume between post-adolescent adults and pre-adolescent children. Twin-based biometric analyses demonstrated that longitudinal axis subregions are associated with significant, unique, genetic variance, and that longitudinal axis subregions that are closer to one another are more genetically related than those further to one another. Although our analyses find that certain transverse axis subfields have significant, unique, sources of genetic variance, others (e.g, CA1, DG) do not exhibit significant, unique, sources of genetic variance. Lastly, we do not find any differences in univariate or multivariate sources of genetic influence between children and adults. This study is the first to demonstrate evidence of genetic differentiation of gray matter volume along the human hippocampal longitudinal axis in living humans. Given that twin-based study designs are the most statistically powered to detect aggregated genetic effects, and the fact that the following study utilizes an unprecedented sample size to study the genetic components of hippocampal volume (930 twin pairs), the following study represents the most statistically powered investigation of hippocampal genetic differentiation in living humans.

关键词： Medical Genetics  

ISBN: (数字)9781119847212 ISBN: (纸本)9781119847182

摘要： Medical Genetics and Genomics A comprehensive question-and-answer book for those preparing for board examinations on clinical genetics Medical Genetics and Genomics: Questions for Board Review provides more than 350 high-yield multiple choice questions (MCQs) to help readers prepare for standardized examinations for accreditation and ongoing certification in the various fields of medical genetics and genomics, as well as other trainees and learners who want to understand more about the field. Written by a leading authority in clinical genetics with extensive teaching experience in academia, government, biotech, and in healthcare, this invaluable study aid covers essential terminology, clinical diagnosis and manifestations of specific conditions, laboratory and testing approaches, management of genetic conditions, and more. The questions are organized into thematic areas to help readers focus on specific areas within the field of genetics and genomics. Each section of questions is followed by fully annotated answers with concise explanations and up-to-date references. Throughout the book, high-quality illustrations are presented to enhance understanding of all key concepts. Contains more than 350 multiple choice questions covering multiple areas of genetics Provides clear and concise answers with brief and focused explanations Helpful for preparation for American Board of Medical Genetics and Genomics (ABMGG) and American Board of Genetic Counseling (ABGC) board examinations, as well as for general study of medical genetics and genomics Includes full references to scientific and medical articles, traditional textbooks, online articles, and other internet resources Medical Genetics and Genomics: Questions for Board Review is a must-have for clinical trainees, physicians, laboratory geneticists, genetic counselors, and allied health professionals working in medical genetics.

关键词： 异常胎儿   染色体微阵列分析   超声   产前诊断   遗传学技术  

摘要： 目的探究染色体微阵列分析(CMA)技术在超声异常胎儿产前遗传学诊断中的应用价值.方法选取2017年3月至2019年12月就诊于我院的145例超声检测发现胎儿异常的孕妇,均进行常规染色体核型分析和CMA检测,分析单核苷酸多态性微阵列(SNP array)检测结果,并对致病CMA结果进行分析.结果145例超声异常的胎儿中,检出非整倍体8例,检出率5.52%;≥10Mb染色体重复/缺失5例,检出率3.45%;<10Mb染色体微重复/缺失11例,检出率7.59%.121例核型正常的胎儿中,致病性基因拷贝数变异(CNV)、临床意义不明确CNV(VOUS)、良性CNV分别占7.44%、88.43%、4.13%.9例致病CNV经CMA检测出心脏畸形伴变异型Dandy-Walker畸形1例、心脏畸形伴DiGeorge综合征2例、心脏畸形1例、肺发育畸形1例、双侧侧脑室扩张伴小脑横径小于正常预测值M-2.8SD1例、双侧侧脑室增宽伴小脑测值小于正常预测值M-3SD1例、胎儿生长受限伴鼻骨缺失1例,胎儿生长受限1例.结论CMA技术可有效发现超声异常胎儿的染色体微重复/微缺失,对产前遗传学诊断具有重要价值.

关键词： 医学遗传学   一流本科课程   教学改革   创新  

摘要： 医学遗传学是探讨人类疾病发生的遗传机制以及应用遗传学原理和技术进行疾病诊断、治疗和预防的学科。甘肃医学院医学遗传学教学团队积极适应社会对医学人才需求的变化,立足创新型医学人才培养要求,围绕国家级一流本科课程建设标准,对医学遗传学课程进行了一系列的设计与改革:以课堂教学为主渠道,培养学生的创新意识;以科学研究为切入点,培养学生的创新思维;以社会实践为途径,提升学生的创新能力;以信息化教学为载体,激发学生的创新精神。教学改革持续推动学生向创新型人才发展,希望能够为同类院校医学遗传学课程改革提供参考。

关键词： 出生缺陷   现代医学   遗传学   胚胎学  

摘要： 在历史的大部分时间里,人们认为出生缺陷源于上帝的愤怒,是对父母的惩罚。这种观念一直持续到胚胎学和遗传学的出现,人们才对出生缺陷作出早期的医学解释。遗传学既是人类的梦,也是打开现代医学大门的钥匙。