Sotabase

Career

· Research Scientist, Stanford University2014–
· Consulting Analyst, Accenture2012–
· Co-founder and Chief Technology Officer, Survata2012–
· Morgridge Family SIGF Fellow, Stanford University2010–2012
· Senior Director, Product Management, Pacific Biosciences
· Pacific Biosciences
· Doctor of Philosophy in Computer Science, Stanford University
· Bachelor of Science in Computer Engineering, University of Notre Dame

Publications (73)

GREAT improves functional interpretation of cis-regulatory regions
Nature Biotechnology · 2010
4,267
cited
The complete sequence of a human genome
bioRxiv · 2021
2,169
cited
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
Nature Biotechnology · 2019
1,364
cited
Variant Review with the Integrative Genomics Viewer.
Cancer Research · 2017
906
cited
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Nature Genetics · 2016
778
cited
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Nature Communications · 2017
762
cited
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Science · 2021
569
cited
Human-specific loss of regulatory DNA and the evolution of human-specific traits
Nature · 2011
479
cited
The complete sequence of a human Y chromosome
bioRxiv · 2023
347
cited
A robust benchmark for detection of germline large deletions and insertions
Nature Biotechnology · 2020
336
cited
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
Genetics in Medicine · 2016
301
cited
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Genetics in Medicine · 2017
228
cited
Coding exons function as tissue-specific enhancers of nearby genes
Genome Research · 2012
224
cited
Curated variation benchmarks for challenging medically-relevant autosomal genes
Nature Biotechnology · 2021
163
cited
Semi-automated assembly of high-quality diploid human reference genomes
Nature · 2022
157
cited
Benchmarking challenging small variants with linked and long reads
bioRxiv · 2020
152
cited
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Nature Biotechnology · 2022
126
cited
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Nature Communications · 2019
118
cited
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads
bioRxiv · 2019
115
cited
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Brain : a journal of neurology · 2017
101
cited
Sotabase
Aaron Wenger | Researcher Profile | Sotabase | Sotabase