Guidelines for investigating causality of sequence variants in human disease
MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W., Gunter, C.
Published in Nature (London) (24.04.2014)
Published in Nature (London) (24.04.2014)
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Journal Article
Prediction of deleterious human alleles
Sunyaev, S, Ramensky, V, Koch, I, Lathe, 3rd, W, Kondrashov, A S, Bork, P
Published in Human molecular genetics (15.03.2001)
Published in Human molecular genetics (15.03.2001)
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Journal Article
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease
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., Undiagnosed Diseases Network, Brigham Genomic Medicine, SEQuencing a Baby for an Optimal Outcome, Quantori, Krier, J.B.
Published in Journal of biomedical informatics (01.09.2022)
Published in Journal of biomedical informatics (01.09.2022)
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Journal Article
Charting the Proteomes of Organisms with Unsequenced Genomes by MALDI-Quadrupole Time-of-Flight Mass Spectrometry and BLAST Homology Searching
Shevchenko, Andrej, Sunyaev, Shamil, Loboda, Alexander, Shevchenko, Anna, Bork, Peer, Ens, Werner, Standing, Kenneth G
Published in Analytical chemistry (Washington) (01.05.2001)
Published in Analytical chemistry (Washington) (01.05.2001)
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Journal Article
Impact of selection, mutation rate and genetic drift on human genetic variation
Sunyaev, Shamil, Kondrashov, Fyodor A., Bork, Peer, Ramensky, Vasily
Published in Human molecular genetics (15.12.2003)
Published in Human molecular genetics (15.12.2003)
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Journal Article
Protein evolution Causes of trends in amino-acid gain and loss (Reply)
Jordan, I. K, Koonin, E. V, Sunyaev, S, Kondrashov, A. S, Kondrashov, F. A, Adzhubei, I. A, Wolf, Y. I
Published in Nature (London) (24.08.2006)
Published in Nature (London) (24.08.2006)
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Journal Article
Sequencing studies in human genetics: design and interpretation
Goldstein, David B., Allen, Andrew, Keebler, Jonathan, Margulies, Elliott H., Petrou, Steven, Petrovski, Slavé, Sunyaev, Shamil
Published in Nature reviews. Genetics (01.07.2013)
Published in Nature reviews. Genetics (01.07.2013)
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Journal Article
SNP frequencies in human genes: an excess of rare alleles and differing modes of selection
Sunyaev, Shamil R., Lathe III, Warren C., Ramensky, Vasily E., Bork, Peer
Published in Trends in genetics (01.08.2000)
Published in Trends in genetics (01.08.2000)
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Journal Article
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
Coste, Bertrand, Houge, Gunnar, Murray, Michael F., Stitziel, Nathan, Bandell, Michael, Giovanni, Monica A., Philippakis, Anthony, Hoischen, Alexander, Riemer, Gunnar, Steen, Unni, Steen, Vidar Martin, Mathur, Jayanti, Cox, James, Lebo, Matthew, Rehm, Heidi, Weiss, Scott T., Wood, John N., Maas, Richard L., Sunyaev, Shamil R., Patapoutian, Ardem
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2013)
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Journal Article
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
Pasaniuc, Bogdan, Rohland, Nadin, McLaren, Paul J, Garimella, Kiran, Zaitlen, Noah, Li, Heng, Gupta, Namrata, Neale, Benjamin M, Daly, Mark J, Sklar, Pamela, Sullivan, Patrick F, Bergen, Sarah, Moran, Jennifer L, Hultman, Christina M, Lichtenstein, Paul, Magnusson, Patrik, Purcell, Shaun M, Haas, David W, Liang, Liming, Sunyaev, Shamil, Patterson, Nick, de Bakker, Paul I W, Reich, David, Price, Alkes L
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Journal Article
Dobzhansky-Muller Incompatibilities in Protein Evolution
Kondrashov, Alexey S., Sunyaev, Shamil, Kondrashov, Fyodor A.
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
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Journal Article
Metabolites: a helping hand for pathway evolution?
Schmidt, Steffen, Sunyaev, Shamil, Bork, Peer, Dandekar, Thomas
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.06.2003)
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.06.2003)
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