HMS placeholder

Shamil R. Sunyaev, Ph.D.

Professor of Medicine
617-525-6675
Publications View
Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations.
Authors: Authors: Seplyarskiy VB, Akkuratov EE, Akkuratova N, Andrianova MA, Nikolaev SI, Bazykin GA, Adameyko I, Sunyaev SR.
Nat Genet
View full abstract on Pubmed
Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.
Authors: Authors: Gazal S, Loh PR, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL.
Nat Genet
View full abstract on Pubmed
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.
Authors: Authors: Bodea CA, Mitchell AA, Bloemendal A, Day-Williams AG, Runz H, Sunyaev SR.
Genome Biol
View full abstract on Pubmed
A literature review at genome scale: improving clinical variant assessment.
Authors: Authors: Cassa CA, Jordan DM, Adzhubei I, Sunyaev S.
Genet Med
View full abstract on Pubmed
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Authors: Authors: Chen H, Cade BE, Gleason KJ, Bjonnes AC, Stilp AM, Sofer T, Conomos MP, Ancoli-Israel S, Arens R, Azarbarzin A, Bell GI, Below JE, Chun S, Evans DS, Ewert R, Frazier-Wood AC, Gharib SA, Haba-Rubio J, Hagen EW, Heinzer R, Hillman DR, Johnson WC, Kutalik Z, Lane JM, Larkin EK, Lee SK, Liang J, Loredo JS, Mukherjee S, Palmer LJ, Papanicolaou GJ, Penzel T, Peppard PE, Post WS, Ramos AR, Rice K, Rotter JI, Sands SA, Shah NA, Shin C, Stone KL, Stubbe B, Sul JH, Tafti M, Taylor KD, Teumer A, Thornton TA, Tranah GJ, Wang C, Wang H, Warby SC, Wellman DA, Zee PC, Hanis CL, Laurie CC, Gottlieb DJ, Patel SR, Zhu X, Sunyaev SR, Saxena R, Lin X, Redline S.
Am J Respir Cell Mol Biol
View full abstract on Pubmed
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Authors: Authors: Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D.
NPJ Genom Med
View full abstract on Pubmed
Bayesian inference of negative and positive selection in human cancers.
Authors: Authors: Weghorn D, Sunyaev S.
Nat Genet
View full abstract on Pubmed
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer.
Authors: Authors: D Antonio M, Weghorn D, D Antonio-Chronowska A, Coulet F, Olson KM, DeBoever C, Drees F, Arias A, Alakus H, Richardson AL, Schwab RB, Farley EK, Sunyaev SR, Frazer KA.
Nat Commun
View full abstract on Pubmed
Lessons from the CAGI-4 Hopkins clinical panel challenge.
Authors: Authors: Chandonia JM, Adhikari A, Carraro M, Chhibber A, Cutting GR, Fu Y, Gasparini A, Jones DT, Kramer A, Kundu K, Lam HYK, Leonardi E, Moult J, Pal LR, Searls DB, Shah S, Sunyaev S, Tosatto SCE, Yin Y, Buckley BA.
Hum Mutat
View full abstract on Pubmed
Negative selection in humans and fruit flies involves synergistic epistasis.
Authors: Authors: Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC, van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR.
Science
View full abstract on Pubmed