Correspondence on "ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Lee et al [0.03%]
关于“临床外显子组和基因组测序的二级结果报告的ACMG SF v3.3列表：美国医学遗传学院(AMCG)的一项政策声明”（李等）的来信
Natalie T Deuitch,Paul P Liu,David J Young et al.
Natalie T Deuitch et al.
Correspondence on "Sequencing and health data resource of children of African ancestry" [0.03%]
关于“非洲血统儿童的测序和健康数据资源”的来信
Michael Allison,Terresa Adams,Jennifer Foster et al.
Michael Allison et al.
Leah C Kottyan,Scott Richards,Morgan E Tracy et al.
Leah C Kottyan et al.
Purpose: Individuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this g...
Kristy Lee,Christa Lese Martin,David T Miller
Kristy Lee
The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death [0.03%]
人类不可耐基序数据库：一个用于在死产、妊娠丢失和新生儿死亡中优先处理基因组变异的数据库
Svetlana A Yatsenko,Amrita Nagasuri,Vishal Soman et al.
Svetlana A Yatsenko et al.
Purpose: The application of next-generation sequencing in prenatal and neonatal genomic medicine provides definite diagnosis, impacts clinical decision-making and reproductive planning. Despite recent advances, interpreta...
Estimation of the number of people with Down syndrome in Latin America and the Caribbean [0.03%]
拉丁美洲和加勒比地区唐氏综合症患者数量估计
Gert de Graaf,Frank Buckley,Brian G Skotko
Gert de Graaf
Purpose: We estimate the live births and overall population with Down syndrome (DS) in Latin America and the Caribbean from 1950 to 2020. This study adds to previous work from the United States, Europe, Australia, New Zea...
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing [0.03%]
基因组时代威尔森-荣格纳原则的操作化：国际新生儿测序联盟的共识建议
Lilian Downie,Julie Yeo,Thomas Minten et al.
Lilian Downie et al.
Purpose: For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions include...
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism [0.03%]
新型EMX2罕见变异导致特发性低促性腺激素性性腺功能减退症
Maria Stamou,Miranda Tompkins,Hannah Bow et al.
Maria Stamou et al.
Purpose: The genetic etiology of infertility remains unknown. To identify genes for human infertility, we applied a de novo variant analysis in 142 parent-proband trios with idiopathic hypogonadotropic hypogonadism (IHH),...
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants [0.03%]
通过系统评估致病性线粒体DNA和核基因变异来绘制线粒体疾病表型景观
Thiloka Ratnaike,Siddharth Ramanan,Nour Elkhateeb et al.
Thiloka Ratnaike et al.
Purpose: Primary mitochondrial diseases (PMD) arise from variants in the mitochondrial or nuclear genomes. Phenotype-based recognition of specific PMD genotypes remains difficult, prolonging the diagnostic odyssey. We exp...
Perceptions, knowledge, and attitudes toward genetics among psychiatric patients and their relatives: A systematic review and a meta-analysis [0.03%]
精神病患者及其亲属对遗传学的感知、认知和态度：系统评价和meta分析
Matthieu Prudhomme,Boris Chaumette,Philippe Nubukpo et al.
Matthieu Prudhomme et al.
Purpose: Advances in genetic applications within psychiatry offer promising benefits in diagnosis, treatment personalization, and risk prediction. However, ethical concerns-such as fear of discrimination and eugenics-and ...