Uday S. Evani
New York Genome Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, Gene expression and cancer classification
Most-Cited Works
- → High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios(2022)976 cited
- → Haplotype-resolved diverse human genomes and integrated analysis of structural variation(2021)776 cited
- → Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics(2013)402 cited
- → An integrative variant analysis suite for whole exome next-generation sequencing data(2012)275 cited
- → High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios(2021)259 cited
- → Curated variation benchmarks for challenging medically relevant autosomal genes(2022)243 cited
- → Benchmarking challenging small variants with linked and long reads(2022)200 cited
- → Proteomic analysis of age‐dependent changes in protein solubility identifies genes that modulate lifespan(2011)185 cited
- → Recent ultra-rare inherited variants implicate new autism candidate risk genes(2021)141 cited
- → Bioinformatic Tools for Identifying Disease Gene and SNP Candidates(2010)62 cited