Shamil Sunyaev - Publications, H-index & Citations

Shamil Sunyaev

Broad Institute of MIT and Harvard

86H指数

288论文数

7.3W被引数

收录论文 114

发表时间

Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection 近端SNP因果效应量之间的相关性随功能注释而变化，并涉及稳定选择

Nature Genetics

IF29

2026-08-13

PREAI

Martin Jinye Zhang; Arun Durvasula; Colby Chiang; Evan M. Koch; Benjamin J. Strober; Huwenbo Shi; Alison R. Barton; Samuel S. Kim; Omer Weissbrod; Po-Ru Loh; Steven Gazal; Shamil Sunyaev; Alkes L. Price

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies snRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异

Nature Genetics

IF29

2026-03-30

OAAI

Elsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava

Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths 简单DNA重复序列的固有不稳定性塑造了重复长度分布的进化稳定性

Nature Communications

IF15.7

2025-12-09

OAAI

Ryan J. McGinty; Daniel J. Balick; Sergei M. Mirkin; Shamil R. Sunyaev

Hotspots of human mutation point to clonal expansions in spermatogonia 人类突变热点指向精原细胞的克隆性增殖

Nature

IF48.5

2025-10-08

PREAI

Vladimir Seplyarskiy; Mikhail A. Moldovan; Evan Koch; Prathitha Kar; Matthew D. C. Neville; Raheleh Rahbari; Shamil Sunyaev

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations 联合，多方面的基因组分析可以诊断多种，超罕见的单基因表现

Nature Communications

IF15.7

2025-08-07

OAAI

Shilpa Nadimpalli Kobren; Mikhail A. Moldovan; Rebecca Reimers; Daniel Traviglia; Xinyun Li; Danielle Barnum; Alexander Veit; Rosario I. Corona; George de V. Carvalho Neto; Julian Willett; Michele Berselli; William Ronchetti; Stanley F. Nelson; Julian A. Martinez-Agosto; Richard Sherwood; Joel Krier; Isaac S. Kohane; Shamil R. Sunyaev

Are complex traits underpinned by polygenic molecular traits? A reflection on the complexity of gene expression 复杂性状是由多基因分子性状支撑的吗？对基因表达复杂性的思考

PLANT AND CELL PHYSIOLOGY

IF4

2024-11-29

OAAI

Hajheidari, Mohsen; Sunyaev, Shamil; de Meaux, Juliette

Genetic mapping across autoimmune diseases reveals shared associations and mechanisms 跨自身免疫性疾病的遗传图谱揭示了共享的关联和机制

NATURE GENETICS

IF31.8

2024-05-13

PREAI

Lincoln, Matthew R.; Connally, Noah; Axisa, Pierre-Paul; Gasperi, Christiane; Mitrovic, Mitja; van Heel, David; Wijmenga, Cisca; Withoff, Sebo; Jonkers, Iris H.; Padyukov, Leonid; Beecham, Ashley H.; Patsopoulos, Nikolaos A.; Cotsapas, Chris; Booth, David; Goris, An; Oturai, Annette; Saarela, Janna; Fontaine, Betrand; Hemmer, Bertrand; Claes, Martin; Zipp, Frauke; D'Alfonso, Sandra; Martinelli-Boneschi, Filippo; Taylor, Bruce; Harbo, Hanne F.; Kockum, Ingrid; Hillert, Jan; Olsson, Tomas; Oksenberg, Jorge R.; Hintzen, Rogier; Barcellos, Lisa F.; Alfredsson, Lars; Esposito, Federica; Martin, Roland; Haines, Jonathan L.; Pericak-Vance, Margaret A.; Ivinson, Adrian J.; Stewart, Graeme; Hafler, David; Hauser, Stephen L.; Compston, Alastair; Mcvean, Gil; De Jager, Philip; Sawcer, Stephen J.; Mccauley, Jakob L.; Rich, Stephen S.; Graham, Robert R.; Gaffney, Patrick M.; Langefeld, Carl D.; Vyse, Timothy J.; Hafler, David A.; Chun, Sung; Sunyaev, Shamil R.; Cotsapas, Chris

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods CAGI，基因组解释的关键评估，建立了计算遗传变异解释方法的进展和前景

GENOME BIOLOGY

IF9.4

2024-02-22

OAAI

Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M.

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

GENOME BIOLOGY

IF9.4

2024-01-31

OAAI

Fazal, Sarah; Danzi, Matt C.; Xu, Isaac; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil; Reuter, Chloe; Marwaha, Shruti; Wheeler, Matthew; Dolzhenko, Egor; Lucas, Francesca; Wuchty, Stefan; Tekin, Mustafa; Zuechner, Stephan; Aguiar-Pulido, Vanessa

A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription

NATURE GENETICS

IF31.8

2023-11-30

OAAI

Seplyarskiy, Vladimir; Koch, Evan M.; Lee, Daniel J.; Lichtman, Joshua S.; Luan, Harding H.; Sunyaev, Shamil R.

Recurrent mutation in the ancestry of a rare variant

GENETICS

IF5.1

2023-03-27

OAAI

Wakeley, John; Fan, Wai-Tong (Louis); Koch, Evan; Sunyaev, Shamil

Revisiting mutagenesis at non-B DNA motifs in the human genome

NATURE STRUCTURAL & MOLECULAR BIOLOGY

IF10.1

2023-03-13

OAAI

McGinty, R. J.; Sunyaev, S. R.

Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits 利用多效性发现和解释睡眠相关性状的gis结果

PLOS GENETICS

IF3.7

2022-12-27

OAAI

Chun, Sung; Akle, Sebastian; Teodosiadis, Athanasios; Cade, Brian E.; Wang, Heming; Sofer, Tamar; Evans, Daniel S.; Stone, Katie L.; Gharib, Sina A.; Mukherjee, Sutapa; Palmer, Lyle J.; Hillman, David; Rotter, Jerome, I; Hanis, Craig L.; Stamatoyannopoulos, John A.; Redline, Susan; Cotsapas, Chris; Sunyaev, Shamil R.

The missing link between genetic association and regulatory function

ELIFE

IF0

2022-12-14

OAAI

Connally, Noah J.; Nazeen, Sumaiya; Lee, Daniel; Shi, Huwenbo; Stamatoyannopoulos, John; Chun, Sung; Cotsapas, Chris; Cassa, Christopher A.; Sunyaev, Shamil R.; Flint, Jonathan

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome 青睐: 变体的功能注释在线资源和人类基因组变异的注释器

NUCLEIC ACIDS RESEARCH

IF13.1

2022-11-09

OAAI

Zhou, Hufeng; Arapoglou, Theodore; Li, Xihao; Li, Zilin; Zheng, Xiuwen; Moore, Jill; Asok, Abhijith; Kumar, Sushant; Blue, Elizabeth E.; Buyske, Steven; Cox, Nancy; Felsenfeld, Adam; Gerstein, Mark; Kenny, Eimear; Li, Bingshan; Matise, Tara; Philippakis, Anthony; Rehm, Heidi L.; Sofia, Heidi J.; Snyder, Grace; Weng, Zhiping; Neale, Benjamin; Sunyaev, Shamil R.; Lin, Xihong

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

JOURNAL OF BIOMEDICAL INFORMATICS

IF4.5

2022-09-01

OAAI

Bouzinier, M. A.; Etin, D.; Trifonov, S., I; Evdokimova, V. N.; Ulitin, V; Shen, J.; Kokorev, A.; Ghazani, A. A.; Chekaluk, Y.; Albertyn, Z.; Giersch, A.; Morton, C. C.; Abraamyan, F.; Bendapudi, P. K.; Sunyaev, S.; Krier, B.

StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-02-01

OAAI

Sharo, Andrew G.; Hu, Zhiqiang; Sunyaev, Shamil R.; Brenner, Steven E.

Overcoming constraints on the detection of recessive selection in human genes from population frequency data 克服从人口频率数据中检测人类基因隐性选择的限制

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-01-01

OAAI

Balick, Daniel J.; Jordan, Daniel M.; Sunyaev, Shamil; Do, Ron