Joanna Martin - A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder
Impact of rare coding variants across the phenotypic spectrum in 100K individuals
Andrea Ganna - Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Discovery Of The First Genetic Risk Factors For ADHD
Raymond Walters - Discovery of the first genome-wide significant risk loci for ADHD
Disease associated rare Copy Number Variants in schizophrenia
Daniel Howrigan - Rare CNVs in schizophrenia: work from the Psychiatric Genetics Consortium
Genetics of ALS and frontotemporal dementia
Sali Farhan - A review of the genetics of amyotrophic lateral sclerosis (ASLS) and frontotemporal dementia
Rare variants affecting educational attainment
Andrea Ganna - rare damaging variants are not only associated with disease but also affect school attainment in more than 16,000 individuals
Spark Summit 2017: Scaling genetic data analysis with Apache Spark
Jon Bloom and Tim Poterba - In 2001, it cost ~$100M to sequence a single human genome. In 2014, due to dramatic improvements in sequencing technology far outpacing Moore’s law, we entered the era of the $1,000 genome. At the same time, the power of genetics to impact medicine has become evident. These factors have led to an explosion in the volume of genetic data, in the face of which existing analysis tools are breaking down.
Spark Summit East 2017: Scaling genetic data analysis
Cotton Seed - The open-source Hail project (https://hail.is) was established to build a scalable platform to enable the worldwide genetics community to build, share, and apply new tools. We will give an overview of the goals of the Hail project and its architecture. The challenge of efficiently manipulating genetic data in Spark has led to several innovations that may have wider applicability, including an RDD-like abstraction for representing multidimensional data and an OrderedRDD abstraction for ordered data, (for example, data indexed by position in the genome). Finally, we will discuss Hail performance and future directions.
Hail: Exploring and analyzing very large genetic data
Jon Bloom - A new open-source, scalable framework for exploring and analyzing genetic data: Hail
Intro to distributed computing
Tim Poterba and Jon Bloom - introduction to distributed computation
From neuroscience to therapy
On February 11, 2016, Keystone Symposia held a panel discussion that was streamed live on Neuroscience: “From Neuroscience to Therapy — How Do We Get There?" with Drs. Benjamin Neale, Guoping Feng and Stacie Weninger, moderated by Dr. Steven E. Hyman.Watch this spirited 90-minute discussion targeted at the scientific community and discussing the state of the field and the path forward. Discussion topics focuses on: basic nature of disease and how it poses a challenge, GWAS studies, how to do studies correctly, moving from failure to success, how to identify, prioritize, and validate targets.
Progress in psychiatric genetics
Ben Neale - to find genes that underlie traits or diseases, scientists often conduct genome-wide association studies (GWAS). GWAS scan the entire genome for common variants to highlight areas likely to harbor influential genes. While researchers long debated whether this was a useful approach to studying psychiatric disease, recent GWAS have revealed vital information about genetic variations that may be associated with these disorders. Benjamin Neale will describe what he and his colleagues have learned from their genome-wide association and next generation sequencing efforts, with a particular focus on schizophrenia and autism.
Broad View with Ben Neale
Ben Neale - to find genes that underlie traits or diseases, scientists often conduct genome-wide association studies (GWAS). GWAS scan the entire genome for common variants to highlight areas likely to harbor influential genes. While researchers long debated whether this was a useful approach to studying psychiatric disease, recent GWAS have revealed vital information about genetic variations that may be associated with these disorders. Benjamin Neale provides an overview on what he and his colleagues have learned from their genome-wide association and next generation sequencing efforts.
Genetic influences on ASD across the frequency spectrum
Ben Neale - the genetic analysis of ASD is accelerating. Increasing sample sizes are revealing risk factors across the allele frequency spectrum. This talk will provide a comprehensive view of the genetic influences on ASD, from common variation through to spontaneously arising variation. For common variation, substantial increases in sample size have started to yield significant common variant association. For rare variation, efforts to aggregate a large scale exome sequencing dataset have sharpened our ability to identify significant genetic risk factors. These studies highlight the importance of taking a comprehensive view of genetic risk and the need to continue increasing sample sizes to build the foundation for understanding the biological mechanisms that drive ASD in the population.
The biometrical model and GWAS technology
Ben Neale - this 2013 BroadE Statistical Genetics workshop provides an introduction to the basic principles of statistical genetic analysis. This course is targeted for individuals who are interested in learning the basics of genetic analysis. Specific areas of focus for the course include: study design considerations for genetic association tests, quality control (QC) procedures for genetic data, basic analysis of genome-wide association SNP data, and introduction to rare variant testing approaches.
Sequencing and rare variant analysis
Ben Neale - the Primer on Medical and Population Genetics is a series of informal weekly discussions of basic genetics topics that relate to human populations and disease. Experts from across the Broad Institute community give in-depth introductions to the basic principles of complex trait genetics, including human genetic variation, genotyping, DNA sequencing methods, statistics, data analysis, and more.
Broad Institute: Disease Research
The Eli and Edythe L. Broad Institute of MIT and Harvard was launched in 2004 to empower this generation of creative scientists to transform medicine. The Broad Institute seeks to describe all the molecular components of life and their connections; discover the molecular basis of major human diseases; develop effective new approaches to diagnostics and therapeutics; and disseminate discoveries, tools, methods and data openly to the entire scientific community. Broad Institute, 2015. All rights reserved.
Broad Institute Groundbreaking Announcement
On July 22 the Broad Institute of MIT and Harvard made a groundbreaking announcement: philanthropist Ted Stanley has made a commitment of $650 million to the Broad Institute to galvanize scientific research on psychiatric disorders and bring new treatments based on molecular understanding to hundreds of millions of people around the world. Copyright Broad Institute, 2014. All rights reserved.
A mental health breakthrough at the Stanley Center
Findings from a team at the Stanley Center for Psychiatric Research and our partners represent the first time that the origin of schizophrenia has been causally linked to specific gene variants and a biological process. Copyright Broad Institute, 2016. All rights reserved.