A practical view of fine-map** and gene prioritization in the post-genome-wide association era
Over the past 15 years, genome-wide association studies (GWASs) have enabled the
systematic identification of genetic loci associated with traits and diseases. However, due to …
systematic identification of genetic loci associated with traits and diseases. However, due to …
The genetic etiology of eosinophilic esophagitis
Eosinophilic esophagitis (EoE) is a chronic allergic disease associated with marked
mucosal eosinophil accumulation. Multiple studies have reported a strong familial …
mucosal eosinophil accumulation. Multiple studies have reported a strong familial …
Overview of genoty** technologies and methods
Genetics is a cornerstone of molecular biology, and there have been significant
developments in genoty** technologies during the last decades. Genoty** can be used …
developments in genoty** technologies during the last decades. Genoty** can be used …
[HTML][HTML] Examining the biological mechanisms of human mental disorders resulting from gene-environment interdependence using novel functional genomic …
We explore how functional genomics approaches that integrate datasets from human and
non-human model systems can improve our understanding of the effect of gene …
non-human model systems can improve our understanding of the effect of gene …
Rare variant association testing in the non-coding genome
The development of next-generation sequencing technologies has opened-up some new
possibilities to explore the contribution of genetic variants to human diseases and in …
possibilities to explore the contribution of genetic variants to human diseases and in …
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
CE Flück, L Audí, M Fernández-Cancio… - Frontiers in …, 2019 - frontiersin.org
Disorders/differences of sex development (DSD) are the result of a discordance between
chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes …
chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes …
The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome
Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion
of the heritability can be accounted for by common genetic risk variants identified to date. It is …
of the heritability can be accounted for by common genetic risk variants identified to date. It is …
Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data
The development of high-throughput next-generation sequencing technologies and large-
scale genetic association studies produced numerous advances in the biostatistics field …
scale genetic association studies produced numerous advances in the biostatistics field …
Genetics in psychiatry: Methods, clinical applications and future perspectives
C Fabbri - Psychiatry and Clinical Neurosciences Reports, 2022 - Wiley Online Library
Psychiatric disorders and related traits have a demonstrated genetic component, with
heritability estimated by twin studies generally between 80% and 40%. Their pathogenesis …
heritability estimated by twin studies generally between 80% and 40%. Their pathogenesis …
Rare variant association on unrelated individuals in case–control studies using aggregation tests: existing methods and current limitations
Over the past years, progress made in next-generation sequencing technologies and
bioinformatics have sparked a surge in association studies. Especially, genome-wide …
bioinformatics have sparked a surge in association studies. Especially, genome-wide …