Genetics and genomics of congenital heart disease
S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
SPARK: A US cohort of 50,000 families to accelerate autism research
P Feliciano, AM Daniels, LAG Snyder, A Beaumont… - Neuron, 2018 - cell.com
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.
org, a dynamic platform that is engaging thousands of individuals with autism spectrum …
org, a dynamic platform that is engaging thousands of individuals with autism spectrum …
A clinically applicable integrative molecular classification of meningiomas
Meningiomas are the most common primary intracranial tumour in adults. Patients with
symptoms are generally treated with surgery as there are no effective medical therapies. The …
symptoms are generally treated with surgery as there are no effective medical therapies. The …
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Abstract The Zero Childhood Cancer Program is a precision medicine program to benefit
children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline …
children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline …
Ensembl 2019
F Cunningham, P Achuthan, W Akanni… - Nucleic acids …, 2019 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) makes key genomic data sets
available to the entire scientific community without restrictions. Ensembl seeks to be a …
available to the entire scientific community without restrictions. Ensembl seeks to be a …
The DNA methylation landscape of advanced prostate cancer
Although DNA methylation is a key regulator of gene expression, the comprehensive
methylation landscape of metastatic cancer has never been defined. Through whole …
methylation landscape of metastatic cancer has never been defined. Through whole …
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …
Prioritization based on appropriate functional annotations has been used as an …
A catalog of genetic loci associated with kidney function from analyses of a million individuals
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic
complications. Through trans-ancestry meta-analysis of genome-wide association studies of …
complications. Through trans-ancestry meta-analysis of genome-wide association studies of …
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver… - The American Journal of …, 2016 - cell.com
The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …
variants to complex traits is hampered by low statistical power and limited functional data …