Results 251 to 260 of about 4,271,392 (311)

Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics. [PDF]

Genes (Basel)
Pande S, Dawood M, Grochowski CM.
europepmc   +1 more source

Sub-pangenome analysis reveals structural variants associated with fruit color and bacterial wilt resistance in eggplant. [PDF]

Nat Commun
You Q, Peng Z, Li Z, Jiang Y, Wan P, Zhao Y, Zhao W, Zhang S, Cheng H, Chen C, Heng Z, Hu M, Zhou Y, Gaut BS, Sun B, Li T, Liao Y.   +16 more
europepmc   +1 more source

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C). [PDF]

Adv Genet (Hoboken)
Brownstein CA, van der Made CI, Cabral K, Rockowitz S, Kang D, Schieck M, Pang AWC, Robinson JM, Hastie AR, Chaubey A, C.O.V.I.D19hostgenomeS.V. Consortium, Hoischen A, Beggs AH, Adebamowo CA, Andalibi A, Bacanu SA, Bafna V, Bahl J, Barseghyan H, Beggs A, Burdette L, Butte M, Constantoulakis P, Crandall KA, Dehkordi SR, Dennis M, Fang G, Fedrigo O, Finlay D, Goldman MA, Gurusamy U, Hayes V, Hickey G, Hoischen A, Illig T, Ioannidis A, Jarvis E, Koizumi N, Kolhe R, Laamarti M, Labranche C, Leibel S, Levy B, Loose M, Mello C, Nasir J, Phung TL, Rao CPV, Ross T, Sahajpal NS, Shamanna RK, Soto DC, Trablesi A, Wang ZX, Williams SL, Wright V, Zhao H, Zody M.   +57 more
europepmc   +1 more source

Somatic structural variants drive upper tract urothelial carcinoma muscle invasiveness via activation of TPX2 transcription. [PDF]

EBioMedicine
Xu Z, Lv W, He R, Li Y, Peng X, He C, Lin L, Lan L, Sui X, Liu X, Dong W, Yang H, Yuan Z, Fan G, Lin C, Xiang X, Han P.   +16 more
europepmc   +1 more source

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy. [PDF]

Front Genet
Min S, Sun J, Chen W, Feng Z, Zhuang Q, Gao Y, Lin S, Sun S, Lu Y, Li S, Tian X, Huang G, Sheng W, Huang X.   +13 more
europepmc   +1 more source

An optimised computational approach for the identification of somatic structural variants in cancer

Waise S, Mensah N, Lesluyes T, Demeulemeester J, Flanagan A, Pillay N, Van Loo P.   +6 more
europepmc   +1 more source

Resolving the roles of structural variants [PDF]

Nature Reviews Genetics, 2020
Structural variants have proved difficult to characterize using traditional sequencing approaches. In two new studies in Cell, the authors demonstrate the use of pan-genome approaches to identify and explore the impact of structural variants in crop genomes and reveal variants linked to specific agronomic traits.
Joseph A Willson
exaly   +3 more sources