Results 221 to 230 of about 1,791,159 (252)

Whole-Genome Resequencing Reveals Genetic Variation and Selection Signals in <i>Fusarium acuminatum</i> Causing <i>Astragalus</i> Root Rot. [PDF]

J Fungi (Basel)
Xia B, Chen J, Ma B, Dai X, Kong Z.
europepmc   +1 more source

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15. [PDF]

Neurogenetics
Mitsutake A, Matsukawa T, Orimo K, Ueda K, Seki T, Shiio Y, Mitsui J, Ishiura H, Mori H, Tsuji S, Toda T.   +10 more
europepmc   +1 more source

Whole-Genome Variants Resource of 144 Oryza rufipogon Accessions. [PDF]

Sci Data
Zheng L, Mohd Azhan MIH, Ramlee SI, Mohd Hata E, Zulperi D, Gaurav K, Arora S, Md Hatta MA.   +7 more
europepmc   +1 more source

Implementation of a medical genomics program for rare diseases in Uruguay. [PDF]

Orphanet J Rare Dis
Simoes C, Domínguez MF, Rodriguez S, Moraes M, Frade MP, Brandes M, Graña M, Sosa L, Fontenla S, Tapié A, Dell'Oca N, Riess O, Tort J, Naya H, Raggio V, Spangenberg L.   +15 more
europepmc   +1 more source

The Novel HLA-DQB1*06:03:60 Allele Identified by Next-Generation Sequencing and Confirmed by Nanopore Sequencing. [PDF]

HLA
Harfouch E, Gomes M, Hamdaoui A, Merabet M, Chamillard X.   +4 more
europepmc   +1 more source

Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing. [PDF]

Eur J Hum Genet
Schönegger D, Montellier E, Blanchet S, Freycon C, Monti P, Goudie C, Bougeard G, Kratz CP, Hainaut P, Reymer A.   +9 more
europepmc   +1 more source

Genomic Architecture of Selected Schizophrenia-Associated Regions: Co-location of Non-coding and Protein-Coding Genes. [PDF]

Schizophr Bull Open
Hrovatin K, Kunej T, Trampuž SR, Terzić T, Plesničar BK, Goričar K, Dolžan V.   +6 more
europepmc   +1 more source

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes. [PDF]

NPJ Genom Med
Zhao X, Rigobello R, Driver M, Lau S, Chong ML, Chibuk J, Dai H, Wu WCW, Peroutka C, Famularo L, Kim AY, Hummel B, Dugan S, Douglas T, Meng L, Xia F, Eng CM.   +16 more
europepmc   +1 more source