[PDF][PDF] Genetic control of expression and splicing in developing human brain informs disease mechanisms

RL Walker, G Ramaswami, C Hartl, N Mancuso… - Cell, 2019 - cell.com
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …

Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility

CL Hartl, G Ramaswami, WG Pembroke, S Muller… - Nature …, 2021 - nature.com
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 …

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 …

Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism

…, M Irimia, G Ramaswami, MJ Gandal, C Hartl… - Nature, 2016 - nature.com
Autism spectrum disorder (ASD) involves substantial genetic contributions. These contributions
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 …

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 …

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 …

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 …

[PDF][PDF] Adam: Genomics formats and processing patterns for cloud scale computing

M Massie, F Nothaft, C Hartl, C Kozanitis… - … Technical Report, No …, 2013 - eecs.berkeley.edu
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 …

[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 …