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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

artículo científico publicado en 2022

An integrated map of structural variation in 2,504 human genomes

artículo científico publicado en 2015

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

artículo científico publicado en 2019

CAMERA 2.0: A Data-centric Metagenomics Community Infrastructure Driven by Scientific Workflows

Case Study on the Use of REST Architectural Principles for Scientific Analysis: CAMERA – Community Cyberinfrastructure for Advanced Microbial Ecology Research and Analysis

scholarly article published 2011

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Extending the Data Model for Data-Centric Metagenomics Analysis Using Scientific Workflows in CAMERA

article

Frequency and Complexity of De Novo Structural Mutation in Autism

artículo científico publicado en 2016

High Frequency of Shared Clonotypes in Human T Cell Receptor Repertoires

scientific article published on 01 July 2020

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Multi-platform discovery of haplotype-resolved structural variation in human genomes

artículo científico publicado en 2019

Paternally inherited cis-regulatory structural variants are associated with autism.

artículo científico publicado en 2018

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

artículo científico publicado en 2022

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

artículo científico publicado en 2023

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

artículo científico publicado en 2012

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