Results 211 to 220 of about 1,791,159 (252)

Development and validation of a pipeline for the systematic search for new HLA alleles in WGS data. [PDF]

Front Bioinform
Albert E, Deviatkin A, Smirnova D, Woroncow M, Zobkova G, Mityaeva O, Smirnova A, Bogdanov V, Volchkov P.   +8 more
europepmc   +1 more source

Exonic enhancers are a widespread class of dual-function regulatory elements. [PDF]

Nat Commun
Mouren JC, Torres M, van Ouwerkerk A, Manosalva I, Gallardo F, Spicuglia S, Ballester B.   +6 more
europepmc   +1 more source

Whole-genome resequencing reveals genomic characteristics and candidate genomic regions potentially associated with local adaptation of Leiwuqi yak (<i>Bos grunniens</i>). [PDF]

Front Vet Sci
Shi C, Fu L, Wang T, Zhou J, Zeng Y, Zhang L, Guan X, Wang G, Hu R, Zhou M, Zhao J, Dong X.   +11 more
europepmc   +1 more source

<i>TMPRSS6</i> Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects. [PDF]

Genes (Basel)
Hoving V, Donker AE, Smeets RJP, van den Heuvel BPWJ, Schols SEM, Swinkels DW.   +5 more
europepmc   +1 more source

Diverse Processes Drive the Origination and Maturation of an Array of Enhancers and Silencers During a Vast Evolutionary Timescale of a Bicistronic Gene. [PDF]

Genes (Basel)
Delihas N.
europepmc   +1 more source

Reclassification of a BRCA2 variant, c.8487G > A (p.Gln2829Gln) located at 3' end of exon 19, from uncertain significance to likely pathogenic based on splicing alteration: a case report. [PDF]

Jpn J Clin Oncol
Sasaki R, Eguchi H, Yoshioka S, Nakano S, Kato S, Aruga T, Kutomi G, Arai M.   +7 more
europepmc   +1 more source

Abstracts of 14th International Symposium on Hodgkin Lymphoma

HemaSphere, Volume 10, Issue S2, October 2026.
wiley   +1 more source

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes. [PDF]

BMC Genomics
Srinivasan S, Subramanian S, Zhou H, Hoppmann A, Metzger P, Boerries M, Ramamoorthy S.   +6 more
europepmc   +1 more source

Co-segregation of <i>WFS1</i> p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation. [PDF]

Front Pediatr
Guo X, Chen J, Wang X, Zheng X, Yang F.
europepmc   +1 more source

Case Report: Whole genome sequencing of small cell ovarian carcinomas. [PDF]

Front Oncol
Daoud S, Tinsley E, Treacy A, Miller C, Thompson C, Hennessey BT, Toomey S, Furney SJ.   +7 more
europepmc   +1 more source