scispace - formally typeset
A

Angel Carracedo

Researcher at University of Santiago de Compostela

Publications -  938
Citations -  44892

Angel Carracedo is an academic researcher from University of Santiago de Compostela. The author has contributed to research in topics: Population & Single-nucleotide polymorphism. The author has an hindex of 88, co-authored 885 publications receiving 38053 citations. Previous affiliations of Angel Carracedo include King Abdulaziz University & University of Oslo.

Papers
More filters
Journal ArticleDOI

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
Journal ArticleDOI

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, +64 more
- 26 Sep 2013 - 
TL;DR: Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes.
Journal ArticleDOI

Common variants conferring risk of schizophrenia

Hreinn Stefansson, +94 more
- 06 Aug 2009 - 
TL;DR: Findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Journal ArticleDOI

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, +201 more
- 06 Feb 2020 - 
TL;DR: The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
Journal ArticleDOI

Association analysis identifies 65 new breast cancer risk loci

Kyriaki Michailidou, +396 more
- 02 Nov 2017 - 
TL;DR: A genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry finds that heritability of Breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome- wide average.