Jason O'Rawe
Cold Spring Harbor Laboratory(US)Stony Brook University(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations
Most-Cited Works
- → Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing(2013)468 cited
- → Accurate de novo and transmitted indel detection in exome-capture data using microassembly(2014)234 cited
- → Reducing INDEL calling errors in whole genome and exome sequencing data(2014)182 cited
- → Indel variant analysis of short-read sequencing data with Scalpel(2016)135 cited
- → TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations(2015)125 cited
- → Accounting for uncertainty in DNA sequencing data(2015)62 cited
- → Natural language of uncertainty: numeric hedge words(2014)39 cited
- → Human Genetics and Clinical Aspects of Neurodevelopmental Disorders(2015)18 cited
- → SeqHBase: a big data toolset for family based sequencing data analysis(2015)18 cited
- → Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline(2015)7 cited