Rare-variant collapsing analyses for complex traits: guidelines and applications
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …
variation in human disease. Advances optimizing and economizing high-throughput …
Cancer genetics, precision prevention and a call to action
More than 15 years have passed since the identification, through linkage, of 'first-
wave'susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These …
wave'susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These …
Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients
AJ Bloom, X Mao, A Strickland, Y Sasaki… - Molecular …, 2022 - Springer
Background In response to injury, neurons activate a program of organized axon self-
destruction initiated by the NAD+ hydrolase, SARM1. In healthy neurons SARM1 is …
destruction initiated by the NAD+ hydrolase, SARM1. In healthy neurons SARM1 is …
Burden testing of rare variants identified through exome sequencing via publicly available control data
The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
The genetic landscape of Diamond-Blackfan anemia
JC Ulirsch, JM Verboon, S Kazerounian… - The American Journal of …, 2018 - cell.com
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of
1,000,000 live births and has been associated with mutations in components of the …
1,000,000 live births and has been associated with mutations in components of the …
Exome-wide association study identifies GREB1L mutations in congenital kidney malformations
S Sanna-Cherchi, K Khan, R Westland… - The American Journal of …, 2017 - cell.com
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney
disease and are highly genetically heterogeneous. We conducted whole-exome sequencing …
disease and are highly genetically heterogeneous. We conducted whole-exome sequencing …
Genetic determinants of sudden unexpected death in pediatrics
HY Koh, A Haghighi, C Keywan, S Alexandrescu… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to evaluate genetic contributions to sudden unexpected death in
pediatrics (SUDP). Methods We phenotyped and performed exome sequencing for 352 …
pediatrics (SUDP). Methods We phenotyped and performed exome sequencing for 352 …
Exome-based rare-variant analyses in CKD
S Cameron-Christie, CJ Wolock… - Journal of the …, 2019 - journals.lww.com
Background Studies have identified many common genetic associations that influence renal
function and all-cause CKD, but these explain only a small fraction of variance in these traits …
function and all-cause CKD, but these explain only a small fraction of variance in these traits …
Computational genomics in the era of precision medicine: applications to variant analysis and gene therapy
Rapid methodological advances in statistical and computational genomics have enabled
researchers to better identify and interpret both rare and common variants responsible for …
researchers to better identify and interpret both rare and common variants responsible for …
Learning the kernel for rare variant genetic Association test
Introduction: Compared to Genome-Wide Association Studies (GWAS) for common variants,
single-marker association analysis for rare variants is underpowered. Set-based association …
single-marker association analysis for rare variants is underpowered. Set-based association …