Results 281 to 290 of about 174,007 (375)

Set-up of WGs

Composition of WGs ...
openaire   +1 more source

Proportion of clusters recovered between different mixtures of pol and wgs sequences and all wgs based on overlap coefficient, subset dataset.

August Guang (9975678), Casey W Dunn (21263816), Vlad Novitsky (3366560), Mark Howison (3315450), Rami Kantor (7863)   +4 more
openalex   +1 more source

Position statement from the British Society of Blood and Marrow Transplantation and Cellular Therapy on insertional oncogenesis in gene‐engineered advanced cell therapy products for treatment of haematological disorders

British Journal of Haematology, EarlyView.
S. Ghorashian, R. Sanderson, J. Lee, A. Black, M. A. O'Reilly, D. I. Marks, J. Snowden, D. Richardson, E. Olavarria   +8 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Improving the efficiency of drug resistant tuberculosis treatment trials: a time-to-event alternative marker for bacteriological response and adaptive minimization for randomization. [PDF]

BMC Med Res Methodol
De Vos E, Van Rie A, Abrams S.
europepmc   +1 more source

Remote sensing of hurricane impact (DEAN, 2007) and early vegetation recovery in the mangrove of Fort de France Bay (Martinique, French West Indies) [PDF]

, 2012
Bégué, Agnès, Claden, M., De Gaulejac, B., Guiral, Daniel, Herteman, M., Imbert, Daniel, Laune, P., Morell, Marc   +7 more
core  

Evaluation of somatic and germline SV calling tools on simulated and real WGS data

, 2019
Vladimir Č Tomic, Ana J Popic, Boris Majic, Nikola Skundric, Mladen Ž Jovanovic   +4 more
openalex   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

WGS-based surveillance of third-generation cephalosporin-resistant Escherichia coli from bloodstream infections in Denmark

Journal of Antimicrobial Chemotherapy, 2017
Louise Roer, F. Hansen, M. Thomsen, J. Knudsen, D. S. Hansen, Mikala Wang, Jurgita Samulioniené, U. S. Justesen, B. Røder, H. Schumacher, C. Østergaard, L. Andersen, E. Dzajic, T. Søndergaard, M. Stegger, A. Hammerum, H. Hasman   +16 more
semanticscholar   +1 more source