Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
We address the challenge of detecting the contribution of noncoding mutations to disease
with a deep-learning-based framework that predicts the specific regulatory effects and the …
with a deep-learning-based framework that predicts the specific regulatory effects and the …
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …
combination of rare de novo and inherited variants as well as common variants in at least …
Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA
TN Turner, F Hormozdiari, MH Duyzend… - The American Journal of …, 2016 - cell.com
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected
by simplex autism. For the majority of these families, no copy-number variant (CNV) or …
by simplex autism. For the majority of these families, no copy-number variant (CNV) or …
Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing
Whole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together
with normal parents (trio) is commonly adopted to identify de novo germline mutations …
with normal parents (trio) is commonly adopted to identify de novo germline mutations …
McTwo: a two-step feature selection algorithm based on maximal information coefficient
Background High-throughput bio-OMIC technologies are producing high-dimension data
from bio-samples at an ever increasing rate, whereas the training sample number in a …
from bio-samples at an ever increasing rate, whereas the training sample number in a …
Deep learning models for health and safety risk prediction in power infrastructure projects
Inappropriate management of health and safety (H&S) risk in power infrastructure projects
can result in occupational accidents and equipment damage. Accidents at work have …
can result in occupational accidents and equipment damage. Accidents at work have …
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar …
M Nishioka, J Takayama, N Sakai, A Kazuno… - Molecular …, 2023 - nature.com
Bipolar disorder (BD) is a global medical issue, afflicting around 1% of the population with
manic and depressive episodes. Despite various genetic studies, the genetic architecture …
manic and depressive episodes. Despite various genetic studies, the genetic architecture …
A Bayesian framework for de novo mutation calling in parents-offspring trios
Motivation: Spontaneous (de novo) mutations play an important role in the disease etiology
of a range of complex diseases. Identifying de novo mutations (DNMs) in sporadic cases …
of a range of complex diseases. Identifying de novo mutations (DNMs) in sporadic cases …
De novo truncating variants in the last exon of SEMA6B cause progressive myoclonic epilepsy
K Hamanaka, E Imagawa, E Koshimizu… - The American Journal of …, 2020 - cell.com
De novo variants (DNVs) cause many genetic diseases. When DNVs are examined in the
whole coding regions of genes in next-generation sequencing analyses, pathogenic DNVs …
whole coding regions of genes in next-generation sequencing analyses, pathogenic DNVs …
Maximal information coefficient-based two-stage feature selection method for railway condition monitoring
T Wen, D Dong, Q Chen, L Chen… - IEEE Transactions on …, 2019 - ieeexplore.ieee.org
In railway condition monitoring, feature classification is a very critical step, and the extracted
features are used to classify the types and levels of the faults. To achieve better accuracy …
features are used to classify the types and levels of the faults. To achieve better accuracy …