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publications [2017/05/05 12:36]
ivan [Selected Recent Publications]
publications [2018/05/02 22:44] (current)
ivan
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 ===== Selected Recent Publications ===== ===== Selected Recent Publications =====
- +  - Cassa CA, Jordan DM, Adzhubei I, Sunyaev SR. A literature review at genome scale: improving clinical variant assessment.\\ Genet Med. 2018 Feb 1. doi: 10.1038/​gim.2017.230. PubMed [[https://​www.ncbi.nlm.nih.gov/​pubmed/​29388949|PMID:​29388949]]. View article at [[http://​rdcu.be/​F3q3|SharedIt]] 
-  - Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'​Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data.\\ Nat Genet. 49(5):​806-810 (2017) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​28369035|PMID:​28369035]].+  - Weghorn D, Sunyaev SR. Bayesian inference of negative and positive selection in human cancers.\\ Nat Genet. 49(12):​1785-1788 (2017). PubMed [[https://​www.ncbi.nlm.nih.gov/​pubmed/​29106416|PMID:​29106416]]. View article at [[http://​rdcu.be/​F0Je|SharedIt]]. 
 +  - Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC; Genome of the Netherlands Consortium; Alzheimer’s Disease Neuroimaging Initiative, van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR. Negative selection in humans and fruit flies involves synergistic epistasis.\\ Science 356(6337):​539-542 (2017). PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​28473589|PMID:​28473589]]. 
 +  - Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'​Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data.\\ Nat Genet. 49(5):​806-810 (2017) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​28369035|PMID:​28369035]]. ​PMC: https://​www.ncbi.nlm.nih.gov/​pubmed/​28369035
   - Chun S, Casparino A, Patsopoulos NA, Croteau-Chonka DC, Raby BA, De Jager PL, Sunyaev SR, Cotsapas C. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune disease-associated loci in three major immune cell types.\\ Nat Genet. 49(4):​600-605 (2017) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​28218759|PMID:​28218759]].   - Chun S, Casparino A, Patsopoulos NA, Croteau-Chonka DC, Raby BA, De Jager PL, Sunyaev SR, Cotsapas C. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune disease-associated loci in three major immune cell types.\\ Nat Genet. 49(4):​600-605 (2017) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​28218759|PMID:​28218759]].
   - Sul JH, Cade BE, Cho MH, Qiao D, Silverman EK, Redline S, Sunyaev S. Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees.\\ Am J Hum Genet. 99(4):​846-859 (2016) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​27666371|PMID:​27666371]].   - Sul JH, Cade BE, Cho MH, Qiao D, Silverman EK, Redline S, Sunyaev S. Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees.\\ Am J Hum Genet. 99(4):​846-859 (2016) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​27666371|PMID:​27666371]].
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 ===== All Other Publications Since 2012 ===== ===== All Other Publications Since 2012 =====
 +  - 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. Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer.\\ Nat Commun. 8 (2017) PubMed [[https://​www.ncbi.nlm.nih.gov/​pubmed/​28874753|PMID:​28874753]].
   - Savova V, Pearl EJ, Boke E, Nag A, Adzhubei I, Horb ME, Peshkin L. Transcriptomic insights into genetic diversity of protein-coding genes in X. laevis.\\ Dev Biol. 424(2):​181-188 (2017) PubMed [[https://​www.ncbi.nlm.nih.gov/​pubmed/​28283406|PMID:​28283406]].   - Savova V, Pearl EJ, Boke E, Nag A, Adzhubei I, Horb ME, Peshkin L. Transcriptomic insights into genetic diversity of protein-coding genes in X. laevis.\\ Dev Biol. 424(2):​181-188 (2017) PubMed [[https://​www.ncbi.nlm.nih.gov/​pubmed/​28283406|PMID:​28283406]].
   - Lenz TL, Spirin V, Jordan DM, Sunyaev SR. Excess of deleterious mutations around HLA genes reveals evolutionary cost of balancing selection.\\ Mol Biol Evol. 33(10):​2555-64 (2016) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​27436009|PMID:​27436009]].   - Lenz TL, Spirin V, Jordan DM, Sunyaev SR. Excess of deleterious mutations around HLA genes reveals evolutionary cost of balancing selection.\\ Mol Biol Evol. 33(10):​2555-64 (2016) PubMed [[http://​www.ncbi.nlm.nih.gov/​pubmed/​27436009|PMID:​27436009]].