Biophysical and mechanistic models for disease-causing protein variants
The rapid decrease in DNA sequencing cost is revolutionizing medicine and science. In
medicine, genome sequencing has revealed millions of missense variants that change …
medicine, genome sequencing has revealed millions of missense variants that change …
Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination
R Zug - Biology Open, 2022 - journals.biologists.com
Many human birth defects and neurodevelopmental disorders are caused by loss-of-function
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …
Using recurrent neural networks for predicting type-2 diabetes from genomic and tabular data
The development of genomic technology for smart diagnosis and therapies for various
diseases has lately been the most demanding area for computer-aided diagnostic and …
diseases has lately been the most demanding area for computer-aided diagnostic and …
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
A Belot, GI Rice, SO Omarjee, Q Rouchon… - The Lancet …, 2020 - thelancet.com
Background Systemic lupus erythematosus (SLE) is a rare immunological disorder and
genetic factors are considered important in its causation. Monogenic lupus has been …
genetic factors are considered important in its causation. Monogenic lupus has been …
[HTML][HTML] Deep learning methods for predicting disease status using genomic data
Predicting disease status for a complex human disease using genomic data is an important,
yet challenging, step in personalized medicine. Among many challenges, the so-called …
yet challenging, step in personalized medicine. Among many challenges, the so-called …
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
L Kasak, JM Hunter, R Udani, C Bakolitsa… - Human …, 2019 - Wiley Online Library
Whole‐genome sequencing (WGS) holds great potential as a diagnostic test. However, the
majority of patients currently undergoing WGS lack a molecular diagnosis, largely due to the …
majority of patients currently undergoing WGS lack a molecular diagnosis, largely due to the …
Empowering individual trait prediction using interactions for precision medicine
Background One component of precision medicine is to construct prediction models with
their predicitve ability as high as possible, eg to enable individual risk prediction. In genetic …
their predicitve ability as high as possible, eg to enable individual risk prediction. In genetic …
What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy
Disorders presenting at the interface between PID and allergy are often difficult to diagnose,
with serious consequences if missed. Application of NGS has already provided critical …
with serious consequences if missed. Application of NGS has already provided critical …
Genetics of Chronotype and Circadian Rhythm Disorders
L Kunorozva, J Lane - Genetics of Sleep and Sleep Disorders, 2024 - Springer
Circadian rhythms are important biological processes that are essential to human health and
well-being. These rhythms are generated by the internal “body clock” and regulate the sleep …
well-being. These rhythms are generated by the internal “body clock” and regulate the sleep …
[HTML][HTML] 家系全外显子组测序鉴定Wolfram 综合征致病突变及其临床性状分析
孟祥雨， 闫丹丹， 陈香慧， 赖思宇， 徐云… - 上海交通大学学报 …, 2023 - xuebao.shsmu.edu.cn
目的· 拟鉴定一个可疑Wolfram 综合征的中国糖尿病家系的致病基因和突变位点,
并进行相关临床性状分析. 方法· 纳入糖尿病家系共12 名成员. 先证者于2013 年5 …
并进行相关临床性状分析. 方法· 纳入糖尿病家系共12 名成员. 先证者于2013 年5 …