Tag: whole-exome sequencing

Maximizing autism gene discovery by combining machine learning and single-cell expression data analyses Thorough understanding the genetic causes of autism spectrum disorder is critical to improving clinical care and advancing biomedical sciences. Yufeng Shen aims to maximize genetic discovery from the exome sequencing…

Mechanisms of complex genetic inheritance in autism Jonathan Sebat is investigating the nature of complex genetic inheritance in autism by assembling a large combined data set from SPARK, the Simons Simplex Collection and other ongoing genome-sequencing efforts…

Integrated copy number variant analysis of SPARK exomes Evan Eichler aims to significantly increase the yield of high-impact autism mutations by focusing on the discovery of both copy number and single nucleotide variants in approximately 15,000 individuals (4,500…

SFARI spring 2018 science meeting discussed latest developments in autism research SFARI held its thirteenth science meeting April 8–12, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and system-level mechanisms, and clinical…

Workshop highlights online platforms for visualizing and exploring SFARI genomics data On April 10, 2018, SFARI held a workshop to discuss online platforms for visualizing and analyzing SFARI genomics data. These platforms included the Genotypes and Phenotypes in Families web interface,…

Autism genetics: Where have we been and where are we going?