[HTML][HTML] Recent advances and challenges of rare variant association analysis in the biobank sequencing era
Causal variants for rare genetic diseases are often rare in the general population. Rare
variants may also contribute to common complex traits and can have much larger per-allele …
variants may also contribute to common complex traits and can have much larger per-allele …
Paternally inherited cis-regulatory structural variants are associated with autism
WM Brandler, D Antaki, M Gujral, ML Kleiber, J Whitney… - Science, 2018 - science.org
The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions
from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited …
from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited …
[PDF][PDF] Frequency and complexity of de novo structural mutation in autism
Genetic studies of autism spectrum disorder (ASD) have established that de novo
duplications and deletions contribute to risk. However, ascertainment of structural variants …
duplications and deletions contribute to risk. However, ascertainment of structural variants …
[HTML][HTML] Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism
Background Autism spectrum disorder (ASD) is one of the most highly heritable
neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to …
neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to …
SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes
Motivation Structural variation (SV) detection from short-read whole genome sequencing is
error prone, presenting significant challenges for population or family-based studies of …
error prone, presenting significant challenges for population or family-based studies of …
[HTML][HTML] Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure
Many large genome-wide association studies (GWAS) have identified common blood
pressure (BP) variants. However, most of the identified BP variants do not overlap with the …
pressure (BP) variants. However, most of the identified BP variants do not overlap with the …
[HTML][HTML] The impact of genotype calling errors on family-based studies
Family-based sequencing studies have unique advantages in enriching rare variants,
controlling population stratification, and improving genotype calling. Standard genotype …
controlling population stratification, and improving genotype calling. Standard genotype …
A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests
Motivation Analysis of rare variants in family-based studies remains a challenge.
Transmission-based approaches provide robustness against population stratification, but …
Transmission-based approaches provide robustness against population stratification, but …
[HTML][HTML] 基于家系数据的罕见变异关联分析方法研究进展
陈曦， 王斯悦， 薛恩慈， 王雪珩， 彭和香， 范梦… - 中华流行病学 …, 2022 - html.rhhz.net
二代测序技术的发展促进了复杂疾病致病性罕见遗传变异的研究. 罕见变异的低频性使得单位点
关联分析功效不足, 因此负荷检验, 方差成分检验等整合多个位点信息的关联分析方法得到了 …
关联分析功效不足, 因此负荷检验, 方差成分检验等整合多个位点信息的关联分析方法得到了 …
Paternally inherited noncoding structural variants contribute to autism
WM Brandler, D Antaki, M Gujral, ML Kleiber, MS Maile… - bioRxiv, 2017 - biorxiv.org
The genetic architecture of autism spectrum disorder (ASD) is known to consist of
contributions from gene-disrupting de novo mutations and common variants of modest effect …
contributions from gene-disrupting de novo mutations and common variants of modest effect …