OpenAlex Citation Counts

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OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!

If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.

Requested Article:

Curated variation benchmarks for challenging medically relevant autosomal genes
Justin Wagner, Nathan D. Olson, Lindsay Harris, et al.
Nature Biotechnology (2022) Vol. 40, Iss. 5, pp. 672-680
Open Access | Times Cited: 151

Showing 1-25 of 151 citing articles:

A draft human pangenome reference
Wen‐Wei Liao, Mobin Asri, Jana Ebler, et al.
Nature (2023) Vol. 617, Iss. 7960, pp. 312-324
Open Access | Times Cited: 577

Haplotype-resolved assembly of diploid genomes without parental data
Haoyu Cheng, Erich D. Jarvis, Olivier Fédrigo, et al.
Nature Biotechnology (2022) Vol. 40, Iss. 9, pp. 1332-1335
Open Access | Times Cited: 363

A complete reference genome improves analysis of human genetic variation
Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto, et al.
Science (2022) Vol. 376, Iss. 6588
Open Access | Times Cited: 270

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
Jana Ebler, Peter Ebert, Wayne E. Clarke, et al.
Nature Genetics (2022) Vol. 54, Iss. 4, pp. 518-525
Open Access | Times Cited: 163

Semi-automated assembly of high-quality diploid human reference genomes
Erich D. Jarvis, Giulio Formenti, Arang Rhie, et al.
Nature (2022) Vol. 611, Iss. 7936, pp. 519-531
Open Access | Times Cited: 140

Benchmarking challenging small variants with linked and long reads
Justin Wagner, Nathan D. Olson, Lindsay Harris, et al.
Cell Genomics (2022) Vol. 2, Iss. 5, pp. 100128-100128
Open Access | Times Cited: 135

Pangenome graph construction from genome alignments with Minigraph-Cactus
Glenn Hickey, Jean Monlong, Jana Ebler, et al.
Nature Biotechnology (2023) Vol. 42, Iss. 4, pp. 663-673
Open Access | Times Cited: 130

Detection of mosaic and population-level structural variants with Sniffles2
Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, et al.
Nature Biotechnology (2024) Vol. 42, Iss. 10, pp. 1571-1580
Open Access | Times Cited: 129

Truvari: refined structural variant comparison preserves allelic diversity
Adam C. English, Vipin K. Menon, Richard A. Gibbs, et al.
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 107

Comprehensive Structural Variant Detection: From Mosaic to Population-Level
Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2022)
Open Access | Times Cited: 92

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Mikhail Kolmogorov, Kimberley Billingsley, Mira Mastoras, et al.
Nature Methods (2023) Vol. 20, Iss. 10, pp. 1483-1492
Open Access | Times Cited: 80

Variant calling and benchmarking in an era of complete human genome sequences
Nathan D. Olson, Justin Wagner, Nathan Dwarshuis, et al.
Nature Reviews Genetics (2023) Vol. 24, Iss. 7, pp. 464-483
Closed Access | Times Cited: 77

Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
Ann M. Mc Cartney, Kishwar Shafin, Michael Alonge, et al.
Nature Methods (2022) Vol. 19, Iss. 6, pp. 687-695
Open Access | Times Cited: 76

A Draft Human Pangenome Reference
Wen‐Wei Liao, Mobin Asri, Jana Ebler, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2022)
Open Access | Times Cited: 73

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 8, pp. 1229-1248
Open Access | Times Cited: 65

Applications of long-read sequencing to Mendelian genetics
Francesco Mastrorosa, Danny E. Miller, Evan E. Eichler
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 56

Utility of long-read sequencing for All of Us
Medhat Mahmoud, Yongqing Huang, Kiran Garimella, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 38

Analysis and benchmarking of small and large genomic variants across tandem repeats
Adam C. English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.
Nature Biotechnology (2024)
Closed Access | Times Cited: 26

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 22

Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Frontiers in Genetics (2024) Vol. 15
Open Access | Times Cited: 19

Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms
Sairam Behera, Severine Catreux, Massimiliano Rossi, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 16

Comprehensive genome analysis and variant detection at scale using DRAGEN
Sairam Behera, Severine Catreux, Massimiliano Rossi, et al.
Nature Biotechnology (2024)
Open Access | Times Cited: 16

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Shloka Negi, Sarah L. Stenton, Seth Berger, et al.
The American Journal of Human Genetics (2025)
Closed Access | Times Cited: 2

Towards accurate and reliable resolution of structural variants for clinical diagnosis
Zhichao Liu, Ruth Roberts, Tim R. Mercer, et al.
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 53

Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation
Giulio Formenti, Arang Rhie, Brian P. Walenz, et al.
Nature Methods (2022) Vol. 19, Iss. 6, pp. 696-704
Open Access | Times Cited: 44

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