Results 151 to 160 of about 16,100 (233)

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer. [PDF]

Mol Biomed
Maleknia S, Hassoun R, Adra N, Shahbazi R.   +3 more
europepmc   +1 more source

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

Bioinform., 2016
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, B. Barnes, F. Schlesinger, Morten Källberg, A. Cox, S. Kruglyak, C. T. Saunders   +8 more
semanticscholar   +1 more source

How Genomic and Structural Context Could Shape JAK-STAT Variant Pathogenicity. [PDF]

Twin Res Hum Genet
Hoffmann M, Lee HK.
europepmc   +1 more source

Integration of Cancer-Related Mutations for Pan-Cancer Analysis

, 2014
Years of sequence feature curation by UniProtKB/Swiss-Prot, PIR-PSD, NCBI-CDD, RefSeq and other database biocurators has led to a rich repository of information on functional sites of genes and proteins.
Wu, Tsung-Jung
core  

Database of recurrent mutations, an unbiased web resource to browse recurrent mutations in cancers. [PDF]

iScience
Chakroborty D, Vaparanta K, Ghimire B, Paatero I, Kurppa KJ, Elenius K.   +5 more
europepmc   +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

Novel nonsynonymous somatic variants identified in HCLc exomes from paired germline analysis.

, 2016
Annotations: COSMIC Catalogue of Somatic Mutations in Cancer; Novel = not present in dbSNP135, 1000 genomes, Complete Genomics 46, the NHLBI GO Exome Sequencing Project), and an in-house database of 279 non-cancer exomes. Functional predictions: PolyPhen-
Will Tapper (1806109), Yurany Moreno (1806118), Hanneke C. Kluin-Nelemans (517486), Dean Bryant (1806106), Sarah Ennis (435142), Melford John (1806112), Jane Gibson (497328), Andrew R. Collins (1806115), Nicola J. Weston-Bell (517484), Surinder S. Sahota (517487)   +9 more
core  

Cancer mutations in RAD51 and its paralogues. [PDF]

PLoS One
Valentine AL, Huth IL, Duff NM, Rabbani AZ, Donahue KN, Bush WA, Bouley RA, Petreaca RC.   +7 more
europepmc   +1 more source

Comprehensive analysis of mutational signatures and corresponding driver genes in cervical cancer from Xinjiang. [PDF]

Biochem Biophys Rep
Chen C, Zhao W, Guo M, Wang W, Ma J, Niyazi M, Zhu K.   +6 more
europepmc   +1 more source

VISDB 2.0: A manually curated resource of viral integration sites and their regulatory maps in human diseases. [PDF]

Sci Data
Citu C, Singh A, Liu X, Ashannagari M, Ratnapriya R, Zhao Z.   +5 more
europepmc   +1 more source