Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment [0.03%]
表皮生长因子受体酪氨酸激酶抑制剂治疗激活PDGFRB的体细胞和生殖细胞变异的效果不同：对治疗方式选择的启示
Ileana Cristea,Roya Mehrasa,Titas Gladkauskas et al.
Ileana Cristea et al.
Platelet-derived growth factor receptor-beta (PDGFRβ) is a receptor tyrosine kinase that plays significant roles in cell growth, proliferation, and differentiation. Germline variants of PDGFRB can lead to several different diseases, e.g. i...
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula [0.03%]
复发性拷贝数变异的位渗透率的新估计值-改进的定义和计算公式
Shuxiang Goh,Tracy Dudding-Byth,Mark Pinese et al.
Shuxiang Goh et al.
Many copy number variants (CNVs) are implicated in neurodevelopmental disability, but exhibit incomplete penetrance. The definition of penetrance is often unclear. In published literature, penetrance typically includes the background risk o...
"Jumping too far ahead": Australian healthcare professional, scientist, and policy maker perspectives on using genomics in newborn screening [0.03%]
“过于超前的举措”——澳大利亚医疗保健专业人员、科学家和决策者对在新生儿筛查中使用基因组学的看法
Joanne Scarfe,Alexis Turner,Christian Meagher et al.
Joanne Scarfe et al.
The future use of genomics in Australia's newborn bloodspot screening (NBS) program is likely to be associated with both positive and negative impacts. Before adopting this technology, it is important to understand the views of all stakehol...
Jo Balfour,Vaila Morrison,Lydia Seed et al.
Jo Balfour et al.
For individuals with rare diseases, complex needs requiring multidisciplinary management can cause disjointed healthcare and challenges communicating with healthcare professionals (HCPs). 'Patient passports' support communication and health...
Twenty years of genome-wide association studies: Health translation challenges and AI opportunities [0.03%]
全基因组关联研究二十周年：健康转化挑战与人工智能机遇
Jie Huang,Gary R McLean,Andre Franke
Jie Huang
A landmark genome-wide association study (GWAS) in 2005 led to a major discovery about the genetics of age-related macular degeneration. Since then, thousands of GWAS have been published and tens of thousands of genomic loci have been repor...
Guidelines for genetic counselling supervision in Europe: a roadmap for ethical, effective, and reflective practice [0.03%]
欧洲遗传咨询监督指南：伦理、有效和反思实践的道路地图
Lídia Guimarães,Marina Serra Lemos,Margarida Rangel Henriques et al.
Lídia Guimarães et al.
This review article presents key guidelines for developing an effective and structured Genetic Counselling Supervision (GCS) framework for Europe. Based on international best practices and the authors' research at both the European and nati...
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders [0.03%]
LMSz法——在罕见疾病中构建基因特异性生长图表的可扩展且可自动化的途径
Karen J Low,Julia Foreman,Rachel J Hobson et al.
Karen J Low et al.
Children with monogenic neurodevelopmental disorders often grow abnormally. Gene-specific growth charts would be useful but require large samples to construct them using the conventional LMS method. We transformed anthropometry to British 1...
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers [0.03%]
DDX41致病性变异携带者髓系肿瘤风险研究进展
Marie-Charlotte Villy,Youenn Drouet,Lise Larcher et al.
Marie-Charlotte Villy et al.
Monoallelic germline DDX41 pathogenic variants (PV) are responsible for the most frequent monogenic predisposition to myeloid neoplasms (MN), i.e., to myelodysplastic syndrome and acute myeloid leukemia. MN are rare clonal diseases affectin...
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders [0.03%]
评估DNA甲基化表观标志物在疑似遗传病患者中的初步诊断价值
Tinatin Tkemladze,Christopher Campbell,Kakha Bregvadze et al.
Tinatin Tkemladze et al.
DNA methylation (DNAm) episignature analysis is an emerging tool for diagnosing individuals with neurodevelopmental disorders, congenital anomalies, and growth disorders. We evaluated its clinical utility as a first-tier test in 62 individu...
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective [0.03%]
史密斯-马格尼斯综合症和波图奇-卢普斯基综合症的DNA甲基化表观标记：镜像视角
Liselot van der Laan,Karim Karimi,Kathleen Rooney et al.
Liselot van der Laan et al.
Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are reciprocal genomic disorders caused by deletions and duplications of the 17p11.2 chromosomal region, respectively. This study aimed to identify and validate DNA methylation...