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American Journal of Human Genetics|March 1, 2002
A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34Michael A Eberle, Roland Pfützer, Kay L Pogue-Geile, et al.
Plos Genetics|October 10, 2007
Power to detect risk alleles using genome-wide tag SNP panelsMichael A Eberle, Pauline C Ng, Kenneth Kuhn, et al.
Communications Biology|July 6, 2022
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA geneMarco Toffoli, Xiao Chen, Fritz J Sedlazeck, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicityMatt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2020
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing dataXiao Chen, Alba Sanchis-Juan, Courtney E French, et al.
Genome Research|December 2, 2016
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigreeMichael A Eberle, Epameinondas Fritzilas, Peter Krusche, et al.
Biorxiv : the Preprint Server for Biology|November 14, 2023
Benchmarking of small and large variants across tandem repeatsAdam English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Nature Biotechnology|April 26, 2024
Analysis and benchmarking of small and large genomic variants across tandem repeatsAdam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
A computational model for quantifying instability of tandem repeats across the genomeEgor Dolzhenko, Adam English, Tom Mokveld, et al.
Biorxiv : the Preprint Server for Biology|December 23, 2024
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing DataJames M Holt, John Harting, Xiao Chen, et al.
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