Sudbery I, Stalker J, Simpson JT, Keane T, Rust AG, Hurles ME, et al. Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels. Genome Biol. 2009;10:R112. Articl...
WGS involves markedly more data processing procedures, such as de novo assembly and alignment within existing genome databases, but it can deliver a more complete view of the heterogeneity within viral populations, which is particularly important for the identification of novel viruses (Goodwin et al...
Sudbery I, Stalker J, Simpson JT, Keane T, Rust AG, Hurles ME, et al. Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels. Genome Biol. 2009;10:R112. Articl...
By sequencing the sperm exome, we identified candidate genes associated with the different causes of reproductive failure in couples with normal infertility workups and semen parameters. In addition, the novel variants identified in our study population may lay the foundation for future gene therapy ...
and choosing an appropriate operating model and corporate structure. We use the specific example of Unravel Biosciences—a therapeutics platform company that identifies novel drug targets through off-target mechanisms of existing drugs and then develops optimized new molecules—throughout the paper and exp...
IS performed whole exome sequencing. DG developed the algorithm for clustering. AA, PP and SM developed the database for phenotype collection and HPO coding. AA also developed the web application. SBGJ and JCS performed co-segregation analysis. AC-H and JDJ performed DNA quality assurance and ...
novel candidate driver mutations in NES cells. Overexpression ofN-MYCreliably leads to SHH subgroup MB from NES cells with transcriptomic profiles that are more reminiscent of the patient tumor than SHH-MB generated in thePtch1+/−mouse model [103]. Moreover, the precise editing of novel gene...
GRKs 2 and 3 primarily mediate agonist-stimulated and overexpression C-terminal tail that of is tGhRe Ksi2tehoafsGbReeKnpshhooswpnhotoryelanthioanncfeorD m2Ranβy-aGrrPeCstRins.rMecurutaitgmeneensti7s. DsTth2uRediDpehs2RofrsolpamhcokNrsytalhmaetikoluonnn5g,g6 and ...
The discovery of Sfi1p as a novel binding partner for the Ca2+-binding protein centrin has provided new insight into the dynamic behavior of centrosomes. Sfi1 binds to multiple centrin molecules along a series of internal repeats, and the complex forms Ca2+-sensitive contractile fibers that func...
Exome sequencingMendelian dominant inheritanceRare variantsCiliaPrimary cilia, bone formation, cell adhesion, and transcription regulation may be the key etiological factors for NSOFC.The X chromosome genesFLNAandGPC3are factors contributing to the incomplete dominance of nonsyndromic orofacial clefts.SCLT1,...