Publications

20 journal articles · 1789 citations · h-index: 16
Last updated 27 Jan 2023

2022
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Increased mutation rate and interlocus gene conversion within human segmental duplications
Vollger MR, DeWitt WS, Dishuck PC, Harvey WT, Guitart X, Goldberg ME, Rozanski A, Lucas J, Asri M, Human Pangenome Reference Consortium, Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh PH, Eichler EE
bioRxiv
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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Porubsky D, Höps W, Ashraf H, Hsieh PH, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maggiolini FA, Harvey WT and Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q, Human Genome Structural Variant Consortium (HGSVC), Lee C, Antonacci F, Steinrucken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO.
Cell
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2021
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A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
Johansson PA, Brattås PL, Douse CH, Hsieh PH, Pontis J, Grassi D, Garza R, Jönsson ME, Atacho DAM, Pircs K, Eren F, Sharma Y, Johansson J, Trono D, Eichler EE, Jakobsson J.
Cell Stem Cell
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Press: Medscape
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
Hsieh PH, Dang V, Vollger MR, Mao Y, Huang T, Dishuck PC, Baker C, Cantsilieris S, Lewis AP, Munson KM, Sorensen M, Welch AE, Underwood JG, Eichler EE.
Nature Communications
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Recent ultra-rare inherited mutations identify novel autism candidate risk genes
Wilfert AB, Turner TN, Murali SC, Hsieh PH, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA, Zody MC, Eichler EE, SPARK Consortium
Nature Genetics
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Press: SPECTRUM · Idaho Press
A high-quality bonobo genome refines the analysis of hominid evolution
Mao Y, Catacchio CR, Hillier LW, Porubsky D, Li R, Sulovari A, Fernandes JD, Montinaro F, Gordon DS, Storer JM, Haukness M, Fiddes IT, Murali SC, Dishuck PC, Hsieh PH, Harvey WT, Audano PA, Mercuri L, Piccolo I, Antonacci F, Munson KM, Lewis AP, Baker C, Underwood JG, Hoekzema K, Huang TH, Sorensen M, Walker JA, Hoffman J, Thibaud-Nissen F, Salama SR, Pang AWC, Lee J, Hastie AR, Paten B, Batzer MA, Diekhans M, Ventura M, Eichler EE.
Nature
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The structure, function, and evolution of a complete human chromosome 8
Logsdon GA, Vollger MR, Hsieh PH, Mao Y, Liskovykh MA, Koren S, Nurk S, Mercuri L, Dishuck PC, Rhie A, de Lima LG, Dvorkina T, Porubsky D, Mikheenko A, Bzikadze AV, Kremitzki M, Graves-Lindsay TA, Jain C, Hoekzema K, Murali SC, Munson KM, Baker C, Sorensen M, Lewis AM, Surti U, Gerton JL, Larionov V, Ventura M, Miga KH, Phillippy AM, Eichler EE.
Nature
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Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Mari RS, Yilmaz F, Zhao X, Hsieh PH, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier A, Abel H, Hall I, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE.
Science
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Press: Yahoo! News · Yahoo! Finance · genomeweb · GEN
2020
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An evolutionary driver of interspersed segmental duplications in primates
Cantsilieris S, Sunkin SM, Johnson ME, Anaclerio F, Huddleston J, Baker C, Dougherty ML, Underwood J, Sulovari A, Hsieh PH, Yafei M, Catacchio CR, Malig M, Welch A, Sorensen M, Munson K, Jiang W, Ventura M, Lamb BT, Conlon RA, Eichler EE
Genome Biology
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Recurrent inversion toggling and great ape genome evolution
Porubsky D, Sanders AD, Höps W, Hsieh PH, Sulovari A, Sorensen M, Murali SC, Gordon D, Cantsilieris S, Pollen AA, Antonacci F, Marschall T, Korbel JO, Eichler EE
Nature Genetics
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2019
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Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
Hsieh PH, Vollger MR, Dang V, Porubsky D, Baker C, Cantsilieris S, Hoekzema K, Lewis AP, Munson KM, Sorensen M, Kronenberg ZN, Murali S, Nelson BJ, Chiatante G, Maggiolini FAM, Blanché H, Underwood JG, Antonacci F, Deleuze JF, Eichler EE.
Science
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Press: Newsweek · NewScientist · genomeweb
Genomic Evidence of Local Adaptation to Climate and Diet in Indigenous Siberians
Hallmark B, Karafet TM, Hsieh PH, Osipova LP, Watkins JC, Hammer MF.
Molecular Biology and Evolution
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2018
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High-resolution comparative analysis of great ape genomes
Kronenberg ZN, Fiddes IT, Gordon D, Murali S, Cantsilieris S, Meyerson OS, Underwood JG, Nelson BJ, Chaisson MJP, Dougherty ML, Munson KM, Hastie AR, Diekhans M, Hormozdiari F, Lorusso N, Hoekzema K, Qiu R, Clark K, Raja A, Welch AE, Sorensen M, Baker C, Fulton RS, Armstrong J, Graves-Lindsay TA, Denli AM, Hoppe ER, Hsieh PH, Hill CM, Pang AWC, Lee J, Lam ET, Dutcher SK, Gage FH, Warren WC, Shendure J, Haussler D, Schneider VA, Cao H, Ventura M, Wilson RK, Paten B, Pollen A, and Eichler EE.
Science
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Press: ScienceDaily · genomeweb · GEN
2017
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A high-coverage Neandertal genome from Vindija Cave in Croatia
Prüfer K, de Filippo C, Grote S, Mafessoni F, Korlević P, Hajdinjak M, Vernot B, Skov L, Hsieh PH, Peyrégne S, Reher D, Hopfe C, Nagel S, Maricic T, Fu Q, Theunert C, Rogers R, Skoglund P, Chintalapati M, Dannemann M, Nelson BJ, Key FM, Rudan P, Kućan Ž, Gušić I, Golovanova LV, Doronichev VB, Patterson N, Reich D, Eichler EE, Slatkin M, Schierup MH, Andrés AM, Kelso J, Meyer M, Pääbo S.
Science
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Press: CBS News · ABC News · Yahoo! · Science · Newsweek · The Scientist
Exome sequencing provides evidence of polygenic adaptation to a fat-rich animal diet in indigenous Siberian populations
Hsieh PH, Hallmark B, Watkins J, Karafet TM, Osipova LP, Gutenkunst RN, Hammer MF.
Molecular Biology and Evolution
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Press: ScienceDaily
2016
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Triallelic population genomics for inferring correlated fitness effects of same site nonsynonymous mutations
Ragsdale AP, Coffman AJ, Hsieh PH, Struck TJ, Gutenkunst RN.
Genetics
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Model-based analyses of whole-genome data reveal a complex evolutionary history involving archaic introgression in Central African Pygmies
Hsieh PH, Woerner AE, Lachance J, Tishkoff S, Wall JD, Gutenkunst RN, Hammer MF.
Genome Research
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Press: New York Times · Smithsonian
Whole genome sequence analyses of Western Central African Pygmy hunter-gatherers reveal a complex demographic history and identify candidate genes under positive natural selection
Hsieh PH, Veeramah KR, Lachance J, Tishkoff S, Wall JD, Gutenkunst RN, Hammer MF.
Genome Research
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Computationally efficient composite likelihood statistics for population genetic inference
Coffman AJ, Hsieh PH, Gravel S, Gutenkunst RN.
Molecular Biology and Evolution
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2015
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Assessing models of speciation under different biological scenarios; an empirical study using multi-locus and RNA-seq analyses
Edwards T, Tollis M, Hsieh PH, Liu Z, Kusumi K, Culver M, Murphy RW.
Ecology and Evolution
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2004
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An XOR-based Reed-Solomon Algorithm for Advanced RAID Systems
Hsieh PH, Chen IY, Lin YT, Kuo SY.
Proceedings of the 19th IEEE International Symposium on Defect and Fault Tolerance in VLSI Systems
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