De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application
Neurodevelopmental and psychiatric disorders are a highly disabling and heterogeneous
group of developmental and mental disorders, resulting from complex interactions of genetic …
group of developmental and mental disorders, resulting from complex interactions of genetic …
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 …
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in
neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome …
neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome …
The 24th annual Nucleic Acids Research database issue: a look back and upcoming changes
MY Galperin, XM Fernández-Suárez… - Nucleic acids …, 2017 - academic.oup.com
Abstract This year's Database Issue of Nucleic Acids Research contains 152 papers that
include descriptions of 54 new databases and update papers on 98 databases, of which 16 …
include descriptions of 54 new databases and update papers on 98 databases, of which 16 …
[HTML][HTML] Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism
Y Du, Z Li, Z Liu, N Zhang, R Wang, F Li, T Zhang… - Genetics in …, 2020 - Elsevier
Purpose Elucidating the genetic architecture underlying autism spectrum disorder (ASD) will
aid in the understanding of its genetic etiology and clinical diagnosis. Methods A …
aid in the understanding of its genetic etiology and clinical diagnosis. Methods A …
Discovery and validation of novel genes in a large chinese autism spectrum disorder cohort
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder that causes
impairments in social communication and stereotypical behaviors, often accompanied by …
impairments in social communication and stereotypical behaviors, often accompanied by …
Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism
B Yuan, M Wang, X Wu, P Cheng, R Zhang… - Neuroscience …, 2023 - Springer
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder
characterized by deficits in social interactions and repetitive behaviors. Although hundreds …
characterized by deficits in social interactions and repetitive behaviors. Although hundreds …
FertilityOnline: A Straightforward Pipeline for Functional Gene Annotation and Disease Mutation Discovery
Exploring the genetic basis of human infertility is currently under intensive investigation.
However, only a handful of genes have been validated in animal models as disease …
However, only a handful of genes have been validated in animal models as disease …
Prioritized high-confidence risk genes for intellectual disability reveal molecular convergence during brain development
Z Liu, N Zhang, Y Zhang, Y Du, T Zhang, Z Li… - Frontiers in …, 2018 - frontiersin.org
Dissecting the genetic susceptibility to intellectual disability (ID) based on de novo mutations
(DNMs) will aid our understanding of the neurobiological and genetic basis of ID. In this …
(DNMs) will aid our understanding of the neurobiological and genetic basis of ID. In this …
Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review
The evolution of next-generation sequencing technologies has facilitated the detection of
causal genetic variants in diseases previously undiagnosed at a molecular level. However …
causal genetic variants in diseases previously undiagnosed at a molecular level. However …