Robert E. Handsaker

200.9k total citations · 6 hit papers
28 papers, 59.7k citations indexed

About

Robert E. Handsaker is a scholar working on Molecular Biology, Genetics and Cancer Research. According to data from OpenAlex, Robert E. Handsaker has authored 28 papers receiving a total of 59.7k indexed citations (citations by other indexed papers that have themselves been cited), including 16 papers in Molecular Biology, 16 papers in Genetics and 6 papers in Cancer Research. Recurrent topics in Robert E. Handsaker's work include Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (9 papers) and Genomics and Phylogenetic Studies (8 papers). Robert E. Handsaker is often cited by papers focused on Genomics and Rare Diseases (9 papers), Genomic variations and chromosomal abnormalities (9 papers) and Genomics and Phylogenetic Studies (8 papers). Robert E. Handsaker collaborates with scholars based in United States, United Kingdom and China. Robert E. Handsaker's co-authors include Gábor Marth, Gonçalo R. Abecasis, Richard Durbin, Heng Li, Tim Fennell, Jue Ruan, Nils Homer, Alec Wysoker, Eric Banks and Adam Auton and has published in prestigious journals such as Nature, Science and Cell.

In The Last Decade

Robert E. Handsaker

27 papers receiving 59.1k citations

Hit Papers

5 papers align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

The Sequence Alignment/Map format and SAMtools

2009 39.7k citations Heng Li, Robert E. Handsaker et al. Bioinformatics profile →
The variant call format and VCFtools

2011 9.9k citations Petr Danecek, Adam Auton et al. Bioinformatics profile →
An integrated map of genetic variation from 1,092 human genomes

2012 5.2k citations Gil McVean, Robert E. Handsaker et al. Nature profile →
Schizophrenia risk from complex variation of complement component 4

2016 1.5k citations Aswin Sekar, Heather de Rivera et al. Nature profile →
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

2008 923 citations Robert E. Handsaker et al. Bioinformatics profile →
Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

2025 45 citations Robert E. Handsaker, Seva Kashin et al. Cell profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Robert E. Handsaker United States	23	31.4k	21.2k	12.4k	5.8k	5.6k	28	59.7k
Gábor Marth United States	34	32.6k 1.0×	21.3k 1.0×	13.2k 1.1×	5.9k 1.0×	6.1k 1.1×	74	60.2k
Tim Fennell United States	8	26.6k 0.8×	14.3k 0.7×	10.0k 0.8×	5.3k 0.9×	4.7k 0.8×	8	47.2k
Jue Ruan China	21	27.6k 0.9×	12.6k 0.6×	11.0k 0.9×	4.4k 0.8×	5.3k 0.9×	65	46.4k
Alec Wysoker United States	8	24.3k 0.8×	11.6k 0.5×	9.1k 0.7×	4.3k 0.7×	4.3k 0.8×	10	43.0k
Gonçalo R. Abecasis United States	85	41.4k 1.3×	36.0k 1.7×	13.2k 1.1×	7.5k 1.3×	5.8k 1.0×	198	88.1k
Nils Homer United States	11	23.6k 0.8×	11.6k 0.5×	9.2k 0.7×	4.3k 0.7×	4.4k 0.8×	16	41.5k
Jun Wang China	107	34.0k 1.1×	9.5k 0.4×	11.7k 0.9×	7.9k 1.4×	4.3k 0.8×	1.9k	66.2k
Ben Langmead United States	31	49.5k 1.6×	11.2k 0.5×	18.4k 1.5×	8.7k 1.5×	8.2k 1.5×	79	79.0k
Mark A. DePristo United States	18	19.7k 0.6×	18.1k 0.9×	8.0k 0.6×	5.3k 0.9×	3.0k 0.5×	23	43.4k
Eric Banks United States	20	18.6k 0.6×	18.3k 0.9×	7.9k 0.6×	5.3k 0.9×	3.0k 0.5×	28	40.4k

Countries citing papers authored by Robert E. Handsaker

Since Specialization

Citations

This map shows the geographic impact of Robert E. Handsaker's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Robert E. Handsaker with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Robert E. Handsaker more than expected).

Fields of papers citing papers by Robert E. Handsaker

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Robert E. Handsaker. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Robert E. Handsaker. The network helps show where Robert E. Handsaker may publish in the future.

Co-authorship network of co-authors of Robert E. Handsaker

This figure shows the co-authorship network connecting the top 25 collaborators of Robert E. Handsaker. A scholar is included among the top collaborators of Robert E. Handsaker based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Robert E. Handsaker. Robert E. Handsaker is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Handsaker, Robert E., David Tang, Nolan Kamitaki, et al.. (2026). Insights into DNA repeat expansions among 900,000 biobank participants. Nature. 650(8103). 920–929.

Mahmoud, Medhat, Yongqing Huang, Kiran Garimella, et al.. (2024). Utility of long-read sequencing for All of Us. Nature Communications. 15(1). 837–837. 43 indexed citations

Hujoel, Margaux L.A., Robert E. Handsaker, Maxwell A. Sherman, et al.. (2024). Protein-altering variants at copy number-variable regions influence diverse human phenotypes. Nature Genetics. 56(4). 569–578. 14 indexed citations

Genovese, Giulio, Curtis J. Mello, Po‐Ru Loh, et al.. (2022). Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions. Scientific Reports. 12(1). 12025–12025. 1 indexed citations

Mukamel, Ronen E., Robert E. Handsaker, Maxwell A. Sherman, et al.. (2021). Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. Science. 373(6562). 1499–1505. 92 indexed citations

Ding, Qiliang, Matthew Edwards, Ning Wang, et al.. (2021). The genetic architecture of DNA replication timing in human pluripotent stem cells. Nature Communications. 12(1). 6746–6746. 22 indexed citations

Loh, Po‐Ru, Giulio Genovese, Robert E. Handsaker, et al.. (2018). Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature. 559(7714). 350–355. 229 indexed citations

Merkle, Florian T., Sulagna Ghosh, Nolan Kamitaki, et al.. (2017). Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. Nature. 545(7653). 229–233. 348 indexed citations

Mashl, R. Jay, Adam Scott, Matthew A. Wyczalkowski, et al.. (2017). GenomeVIP: a cloud platform for genomic variant discovery and interpretation. Genome Research. 27(8). 1450–1459. 10 indexed citations

10.

Sekar, Aswin, Heather de Rivera, Timothy R. Hammond, et al.. (2016). Schizophrenia risk from complex variation of complement component 4. Nature. 530(7589). 177–183. 1548 indexed citations breakdown →

11.

Handsaker, Robert E., Tōnu Esko, Marcus A. Tuke, et al.. (2015). Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics. 47(8). 921–925. 98 indexed citations

12.

Koren, Amnon, Robert E. Handsaker, Nolan Kamitaki, et al.. (2014). Genetic Variation in Human DNA Replication Timing. Cell. 159(5). 1015–1026. 106 indexed citations

13.

Genovese, Giulio, Robert E. Handsaker, Heng Li, Eimear E. Kenny, & Steven A. McCarroll. (2013). Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes. The American Journal of Human Genetics. 93(3). 411–421. 23 indexed citations

14.

Genovese, Giulio, Robert E. Handsaker, Heng Li, et al.. (2013). Using population admixture to help complete maps of the human genome. Nature Genetics. 45(4). 406–414. 44 indexed citations

15.

McVean, Gil, Robert E. Handsaker, Mark A. DePristo, et al.. (2012). An integrated map of genetic variation from 1,092 human genomes. Nature. 491(7422). 56–65. 5167 indexed citations breakdown →

16.

Fromer, Menachem, Jennifer L. Moran, Kimberly Chambert, et al.. (2012). Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth. The American Journal of Human Genetics. 91(4). 597–607. 370 indexed citations

17.

Handsaker, Robert E., et al.. (2012). Structural haplotypes and recent evolution of the human 17q21.31 region. Nature Genetics. 44(8). 881–885. 95 indexed citations

18.

Danecek, Petr, Adam Auton, Gonçalo R. Abecasis, et al.. (2011). The variant call format and VCFtools. Bioinformatics. 27(15). 2156–2158. 9936 indexed citations breakdown →

19.

Handsaker, Robert E., Joshua M. Korn, James Nemesh, & Steven A. McCarroll. (2011). Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nature Genetics. 43(3). 269–276. 227 indexed citations

20.

Li, Heng, Robert E. Handsaker, Alec Wysoker, et al.. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics. 25(16). 2078–2079. 39714 indexed citations breakdown →

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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