Back to search

Article

Leveraging biobank-scale rare and common variant analyses to identify <i>ASPHD1</i> as the main driver of reproductive traits in the 16p11.2 locus

2019-07-26

Abstract excerpt

Whereas genome-wide association studies (GWAS) allowed identifying thousands of associations between variants and traits, their success rate in pinpointing causal genes has been disproportionately low. Here, we integrate biobank-scale phenotype data from carriers of a rare copy-number variant (CNV), Mendelian randomization and animal modeling to identify causative genes in a GWAS locus for age at menarche (AaM). W...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
8eb3835f-5fd7-59da-a10d-19b6db7f6d11
DOI
10.1101/716415
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Leveraging biobank-scale rare and common variant analyses to identify <i>ASPHD1</i> as the main driver of reproductive traits in the 16p11.2 locusDOI 10.1101/716415
The individual and global impact of copy number variants on complex human traitsSemantic proximity
The pleiotropic spectrum of proximal 16p11.2 CNVs.Semantic proximity
A conserved regulatory atlas reveals enhancers critical for mouse and human gonadal developmentSemantic proximity
The individual and global impact of copy-number variants on complex human traits.Semantic proximity
Whole-exome sequencing study of hypospadiasSemantic proximity
Understanding the genetic complexity of puberty timing across the allele frequency spectrumSemantic proximity
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeSemantic proximity
Copy number variants (CNV) interfere with human Accelerated Regions (HARs) to cause neurodevelopmental disorders: a large-scale cohort studySemantic proximity
Exploring Familial Hypospadias: Genetic Insights from Copy Number Variants in a Quad FamilySemantic proximity
Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configurationSemantic proximity
Increased Expression of<i>ZFPM2</i>Bypasses<i>SRY</i>to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSDSemantic proximity
A Comprehensive Analysis of Variations in Sex Characteristics Across OMIM.Semantic proximity
Select a neighboring publication to make it the new centre.