Results 241 to 250 of about 4,111,769 (301)

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene. [PDF]

Neurogenetics
Pilz RA, Begemann M, Pfister S, Boonsawat P, Rauch A, Kurth I, Felbor U, Rath M.   +7 more
europepmc   +1 more source

Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks

Leslie J, Pagnamenta A, Harrold L, Ubeyratna N, Mallin L, Wenger O, Scott E, Puffenberger E, Cassidy E, Owens M, Baple E.   +10 more
europepmc   +1 more source

Pangenome-based association testing between a structural variant located upstream of the KIT gene and head depigmentation across a diverse panel of cattle breeds. [PDF]

Genet Sel Evol
Sorin V, Sanchez MP, Drouilhet L, Tosser-Klopp G, Naji MM, Boichard D, Pausch H, Boussaha M, Leonard AS.   +8 more
europepmc   +1 more source

Application of a French cattle pangenome, from structural variant discovery to association studies on key phenotypes. [PDF]

Genet Sel Evol
Sorin V, Naji MM, Birbes C, Grohs C, Escouflaire C, Fritz S, Eché C, Marcuzzo C, Suin A, Donnadieu C, Gaspin C, Iampietro C, Milan D, Drouilhet L, Tosser-Klopp G, Boichard D, Klopp C, Sanchez MP, Boussaha M.   +18 more
europepmc   +1 more source

OctopuSV and TentacleSV: a one-stop toolkit for multi-sample, cross-platform structural variant comparison and analysis. [PDF]

Bioinformatics
Guo Q, Li Y, Wang TY, Ramakrishnan A, Yang R.   +4 more
europepmc   +1 more source

Pooled, Long-read Sequencing for Structural Variant Characterization in Schistosome Populations. [PDF]

Genome Biol Evol
Nair S, Li X, Anderson TJC, Platt RN.
europepmc   +1 more source

Blackbird: structural variant detection using synthetic and low-coverage long-reads. [PDF]

Bioinform Adv
Meleshko D, Yang R, Maharjan S, Danko DC, Korobeynikov A, Hajirasouliha I.   +5 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