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Year Number of Results
2011 2
2013 4
2014 11
2015 7
2016 6
2017 8
2018 7
2019 2
2020 2
2021 2
2023 1
2024 0

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50 results

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Page 1
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Jin SC, et al. Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9. Nat Genet. 2017. PMID: 28991257 Free PMC article.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
PADRE: Pedigree-Aware Distant-Relationship Estimation.
Staples J, Witherspoon DJ, Jorde LB, Nickerson DA; University of Washington Center for Mendelian Genomics; Below JE, Huff CD. Staples J, et al. Am J Hum Genet. 2016 Jul 7;99(1):154-62. doi: 10.1016/j.ajhg.2016.05.020. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374771 Free PMC article.
Genome Annotation and Curation Using MAKER and MAKER-P.
Campbell MS, Holt C, Moore B, Yandell M. Campbell MS, et al. Curr Protoc Bioinformatics. 2014 Dec 12;48:4.11.1-4.11.39. doi: 10.1002/0471250953.bi0411s48. Curr Protoc Bioinformatics. 2014. PMID: 25501943 Free PMC article.
Long-read sequence assembly of the gorilla genome.
Gordon D, Huddleston J, Chaisson MJ, Hill CM, Kronenberg ZN, Munson KM, Malig M, Raja A, Fiddes I, Hillier LW, Dunn C, Baker C, Armstrong J, Diekhans M, Paten B, Shendure J, Wilson RK, Haussler D, Chin CS, Eichler EE. Gordon D, et al. Science. 2016 Apr 1;352(6281):aae0344. doi: 10.1126/science.aae0344. Science. 2016. PMID: 27034376 Free PMC article.
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC, Khorashad JS, Tantravahi SK, Kelley TW, Zabriskie MS, Yan D, Pomicter AD, Reynolds KR, Eiring AM, Kronenberg Z, Sherman RL, Tyner JW, Dalley BK, Dao KH, Yandell M, Druker BJ, Gotlib J, O'Hare T, Deininger MW. Mason CC, et al. Leukemia. 2016 Apr;30(4):906-13. doi: 10.1038/leu.2015.337. Epub 2015 Dec 9. Leukemia. 2016. PMID: 26648538 Free PMC article.
Wham: Identifying Structural Variants of Biological Consequence.
Kronenberg ZN, Osborne EJ, Cone KR, Kennedy BJ, Domyan ET, Shapiro MD, Elde NC, Yandell M. Kronenberg ZN, et al. PLoS Comput Biol. 2015 Dec 1;11(12):e1004572. doi: 10.1371/journal.pcbi.1004572. eCollection 2015 Dec. PLoS Comput Biol. 2015. PMID: 26625158 Free PMC article.
50 results