[PDF][PDF] Genetic control of expression and splicing in developing human brain informs disease mechanisms
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility
Gene networks have yielded numerous neurobiological insights, yet an integrated view across
brain regions is lacking. We leverage RNA sequencing in 864 samples representing 12 …
brain regions is lacking. We leverage RNA sequencing in 864 samples representing 12 …
A framework for variation discovery and genotyping using next-generation DNA sequencing data
…, R Poplin, KV Garimella, JR Maguire, C Hartl… - Nature …, 2011 - nature.com
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …
genetic variation in population samples, creating a foundation for understanding human …
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Autism spectrum disorder (ASD) involves substantial genetic contributions. These contributions
are profoundly heterogeneous but may converge on common pathways that are not yet …
are profoundly heterogeneous but may converge on common pathways that are not yet …
From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline
…, MO Carneiro, C Hartl… - Current protocols in …, 2013 - Wiley Online Library
This unit describes how to use BWA and the Genome Analysis Toolkit (GATK) to map genome
sequencing data to a reference and produce high‐quality variant calls that can be used in …
sequencing data to a reference and produce high‐quality variant calls that can be used in …
The genetic architecture of type 2 diabetes
…, J Dupuis, PS Chines, CM Lindgren, C Hartl… - Nature, 2016 - nature.com
The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
…, NN Parikshak, V Leppa, G Ramaswami, C Hartl… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic
genetic architecture. However, little is known about how genetic variants impart brain …
genetic architecture. However, little is known about how genetic variants impart brain …
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
…, J Flannick, AK Manning, C Hartl… - Proceedings of the …, 2014 - National Acad Sciences
Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional
regulator of adipocyte differentiation and a canonical target of antidiabetic thiazolidinedione …
regulator of adipocyte differentiation and a canonical target of antidiabetic thiazolidinedione …
[PDF][PDF] Adam: Genomics formats and processing patterns for cloud scale computing
Current genomics data formats and processing pipelines are not designed to scale well to
large datasets. The current Sequence/Binary Alignment/Map (SAM/BAM) formats were …
large datasets. The current Sequence/Binary Alignment/Map (SAM/BAM) formats were …
[HTML][HTML] Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD
…, GD Hoftman, D de Alba, G Ramaswami, CL Hartl… - Nature, 2022 - nature.com
Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …