Author

Adam L. Felsenfeld

National Institutes of Health

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Assay:whole-genome sequencing· 5 Approach:statistical model· 4 Research Focus:variant calling· 4 Research Focus:database / resource· 3 Research Focus:variant effect prediction· 3 Research Focus:gene regulatory network inference· 2 Approach:benchmark study· 1

Frequent Co-Authors

Eimear E. KennyiD· 4 shared Adam FrankishiD· 3 shared Adam M. NovakiD· 3 shared Alexandra P. LewisiD· 3 shared Alexey KolesnikoviD· 3 shared Alice B. PopejoyiD· 3 shared Allison RegieriD· 3 shared Anastasiya BelyaevaiD· 3 shared

Activity by Year

2022-2023 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenomics

Eimear E. KennyORCID

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Author profile →

5 papers

Recent·Most cited

Pangenome Graph Construction from Genome Alignment with Minigraph-Cactus

Glenn Hickey, Jean Monlong, Jana Ebler, Adam M. Novak, Jordan M. Eizenga, Yan Ping Gao, Haley Abel, Lucinda Fulton, Mobin Asri, Gunjan Baid, Carl A. Baker, Anastasiya Belyaeva, Konstantinos Billis, Guillaume Bourque, Silvia Buonaiuto, , Valérie Schneider

The paper introduces Minigraph-Cactus, a pangenome pipeline that constructs pangenome graphs directly from whole-genome alignments, demonstrating improved performance in mapping and variant calling across human and Drosophila data.

Nature Biotechnology · May 10, 2023Peer-reviewedBioinformatics

A Draft Human Pangenome Reference

Wen‐Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian Lucas, Jean Monlong, Haley Abel, Silvia Buonaiuto, Xian H. Chang, Haoyu Cheng, Justin Chu, Vincenza Colonna, , Francesca Floriana Tricomi

The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.

Nature · May 10, 2023Peer-reviewedGenomics

Recombination between heterologous human acrocentric chromosomes

Andrea Guarracino, Silvia Buonaiuto, Leonardo Gomes de Lima, Tamara Potapova, Arang Rhie, Sergey Koren, BORIS Y. RUBINSTEIN, Christian Fischer, Haley Abel, Lucinda L. Antonacci-Fulton, Mobin Asri, Gunjan Baid, Carl A. Baker, Anastasiya Belyaeva, Konstantinos Billis, , Ashley D. Sanders

The paper shows recombination between heterologous human acrocentric chromosomes using pangenome data, revealing pseudo-homologous regions linked to Robertsonian translocations.

Nature · May 10, 2023Peer-reviewedGenomics

FAVOR: Functional Annotation of Variants Online Resource and Annotator for Variation across the Human Genome

Hufeng Zhou, Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill E. Moore, Abhijith Asok, Sushant Kumar, Elizabeth Blue, Steven G. Buyske, Nancy Jean Cox, Adam L. Felsenfeld, Mark Gerstein, Eimear E. Kenny, Bingshan Li, , Xihong Lin

FAVOR provides an online resource and tool for functional annotation of variants from whole genome sequencing studies to aid in disease gene prioritization.

Nucleic Acids Research · Oct 14, 2022Peer-reviewedGenetics

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter, Jennifer Ellen Posey, Nicole J. Lake, Nara Lygia de Macena Sobreira, Jessica X. Chong, Steven G. Buyske, Elizabeth Blue, Lisa Helbling Chadwick, Zeynep Coban‐Akdemir, Kimberly Floy Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, , Kurt N. Hetrick

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

Genetics in Medicine · Feb 8, 2022Peer-reviewedGenetic & Genomic Medicine