Results 41 to 50 of about 4,271,392 (311)

Structural variants in 3000 rice genomes [PDF]

Genome Research, 2019
Investigation of large structural variants (SVs) is a challenging yet important task in understanding trait differences in highly repetitive genomes. Combining different bioinformatic approaches for SV detection, we analyzed whole-genome sequencing data from 3000 rice genomes and identified 63 million individual SV calls that grouped into 1.5 million ...
Roven Rommel Fuentes, Dmytro Chebotarov, Jorge Duitama, Sean Smith, Juan Fernando De la Hoz, Marghoob Mohiyuddin, Rod A. Wing, Kenneth L. McNally, Tatiana Tatarinova, Andrey Grigoriev, Ramil Mauleon, Nickolai Alexandrov   +11 more
openaire   +6 more sources

Variants

, 2015
The variants files- both the unfiltered variants as well as the variants used in the ABC ...
Thibaut Capblancq (3289932), Rioux, Delphine, Mavarez, Jesus, Laurence Després (3257427), Jesus Mavarez (3289935), Després, Laurence, Delphine Rioux (3172653), Capblancq, Thibaut   +7 more
core   +1 more source

The Impact of the COVID‐19 Pandemic on Childhood Cancer Survival: A Population‐Based Assessment of Survival Patterns Between 2015 and 2023 in Germany

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Numerous international studies have reported declines in new cancer diagnoses, delayed diagnoses and disruptions in cancer treatment following the implementation of COVID‐19 pandemic public health measures, raising concerns that these effects may ultimately contribute to increased cancer mortality.
Friederike Erdmann, Maike Wellbrock, Javier Louro, Arndt Borkhardt, Martin Schrappe, Claudia Trübenbach, Desiree Grabow, Cécile M. Ronckers, Joachim Schüz   +8 more
wiley   +1 more source

Association of MC1R Variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study [PDF]

, 2010
<p><b>Background</b> Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes,
Pastorino, L., Melanoma Genetics Consortium, Goldstein, A M, Taylor JC, Ming M, Taylor Y, Martin NG, PUIG S, Rull R, Gliori S, Holland EA., Gonzalez M, Calista, D, Mackie, R.M., Lindén D, N. K. Hayward, Randerson-Moor, J, Palou J, Vilalta A, Ming, M. E., V. Höiom, Belle, P. van, Conill C, Gillanders, E, Avril, M.F., Vidal-Sicart S, Carrera, C., Bishop, J.A.N., Lang, J. M., Bishop, D. T., Mohamdi, H., GRUIS N, Bressac-de Paillerets, B, BIANCHI-SCARRÀ G, Gruis NA, P. A. Kanetsky, Bressac-de Paillerets, B., Malvehy J, N. Gruis, Whiteman DC, CARRERA C, Hayward, N. K., Tucker, M.A., G. J. Mann, van der Velden, P, Badenas C, R. M. Mackie, Stark, M., Nasti S, Marti-Laborda R, GenoMEL, Harbst K, V. Chaudru, RANDERSON-MOOR J, B. Bressac-de Paillerets, C. Ingvar, ELDER DE, PASTORINO L, J. Randerson-Moor, Tsao, H, Mohamdi, H, Landi G, Cuellar F, HAYWARD NK, AVRIL MF, Brassac-de Paillerets, B., Minghetti P, van Belle, P., Carrera, C, C. J. Njauw, Kanetsky P, GenoMEL,, E. Gillanders, A. M. Goldstein, Calista, D., Hayward, N K, Gargiulo S, W. BRUNO, Kanetsky, P.A., Arguís P, Bianchi-Scarra, G., L. Pastorino, D. E. Elder, Bertazzi PA, BERGMAN W, Chaudru, V, Mackie, R M, HÖIOM V, Battistuzzi L, Duffy DL, Origone P, Elder, D. E., Holland, E.A., HANSSON J, MacGregor S, MANN GJ, TUCKER MA, Mack T, Lang, J.M., F. Demenais, X. R. Yang, Ancero A, de Lichy M, Newton Bishop, J. A., Bianhi-Scarrà G, Landi, MT, Leake S, Mann, G J, Landi, M.T., VAN BELLE P, Stark, M, Hayward, N.K., van Mourik L, Yang, X.R., Parossian S, Demenais, F, Nielsen K, Elder, D.E., Tsao, H., Arcangeli F, Montgomery GW, MOHAMDI H, CHAUDRU V, J. Palmer, Mackie, R., M. E. Ming, Demenais, F., AZIZI E, Ming, M E, M. T. Landi, Azizi, E., Holland, E A, Randerson-Moor, J., Alós L, Gruis, N, Olsson, Håkan, J. M. Lang, van Nieuwpport FA, Castel T, LANDI MT, LANG JM, M. F. Avril, Haynes S, Kanetsky, P. A., Queirolo P, Karpavicius B, BISHOP DT, Palmer, J., M. Harland, Hogg, D., J. Hansson, CALISTA D, VAN DER VELDEN P, van der Velden, P., Yang, X R, Chaudru, V., Bergman, W., van Belle, P, Chan M, Höiom, V, BRUNO W, Kanetsky, P A, PALMER J, NJAUW CJ, Lang, J., H. Tsao, Sánchez M, G. Bianchi-Scarrà, Vilella R, NEWTON BISHOP JA, Avril, M F, Maubec E, Goldstein, A.M., P. van der Velden, J. A. Newton Bishop, KANETSKY PA, Mila M, Hoiom, V., Melanoma Genetics Consortium: Demenais F, H. Olsson, BRESSAC-DE PAILLERETS B, Harland, M, Tuominen R, E. A. Holland, Affleck P, Whittaker L, Loo JC, Mackie, R. M., Tesema L, Njauw, C. J., Iles MM, Borg Å, Holland, E. A., Ingvar, Christian, MACKIE RM, Hansson, J., HOLLAND EA, GHIORZO P, Butille JA, Cervera R, Ogbah Z, Azizi, E, Bishop, D.T., C. Carrera, Velden, P. van der, Landi, M. T., Campo A, Ming, M.E., Newton Bishop, J A, Jeannin P, Lang, J M, Bishop, D T, MING ME, Njauw, C J, E. Azizi, HARLAND M, Lang J, M. A. Tucker, Elder D, Gabriel D, Gruis, N., Gillanders, E., W. Bergman, Lesueur F, Capirossi D, DEMENAIS F, STARK M, Mackie R, Ingvar, C., GILLANDERS E, Njauw, C.J., P. van Belle, Barrett JH, GOLDSTEIN AM, M. Stark, Hogg, D, Iglesias P, Puig, S., D. Hogg, Elder, D E, INGVAR C, Kukalizch K, Mann, G.J., Olsson, H., Bergman, W, Pastorino, L, Mann, G. J., S. Puig, Schmid H, Tucker, M A, D. Calista, Mitra N, TSAO H, YANG XR, Kefford RF, P. GHIORZO, Njauw CN, Avril, M. F., Jönsson G, Harrison J, HOGG D, Ruffin A, Aguilera P, D. T. Bishop, Corda E, OLSSON H, Puig, S, Hansson, J, Palmer, J, Bianchi-Scarrà, G, H. Mohamdi, Måsbäck A, Newton Bishop, J.A., Harland, M., Goldstein, A. M., Olsson, Håkan,, Bishop, DT, Ingvar, Christian,, Hayward, NK, Bishop, JAN, Lund University., Goldstein, AM, Kanetsky, PA, Elder, DE   +283 more
core   +1 more source

Chemotherapy for Spinal Cord Intramedullary Pediatric Low‐Grade Glioma—A Systematic Literature Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko, Segev Gabay, Jonathan Roth, Amit Ringel, Rina Dvir, Shlomi Constantini   +5 more
wiley   +1 more source

Structural variant calling: the long and the short of it [PDF]

Genome Biology, 2019
AbstractRecent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution—giving rise to the differences within populations and among species. Nevertheless, characterizing SVs
Medhat Mahmoud, Nastassia Gobet, Diana Ivette Cruz-Dávalos, Ninon Mounier, Christophe Dessimoz, Fritz J. Sedlazeck   +5 more
openaire   +5 more sources

Impact of Initial Treatment Setting on Survival in Relapsed Pediatric and AYA Bone Sarcomas: A Secondary Analysis of a Prospective Clinical Trial

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Outcomes in relapsed or refractory pediatric and AYA bone sarcomas remain poor, and the impact of early referral to specialized sarcoma centers on survival is unclear. Early centralization of care may improve local and systemic treatment quality, but evidence in this population is limited.
Justyna Antoniuk‐Majchrzak, Katarzyna Bilska, Tomasz Koziński, Jadwiga Węcławek‐Tompol, Dorota Sega‐Pondel, Radosław Chaber, Wanda Badowska, Katarzyna Rosłan, Hanna Koseła‐Paterczyk, Anna Raciborska   +9 more
wiley   +1 more source

Structural Characterization of the Histone Variant macroH2A [PDF]

Molecular and Cellular Biology, 2005
macroH2A is an H2A variant with a highly unusual structural organization. It has a C-terminal domain connected to the N-terminal histone domain by a linker. Crystallographic and biochemical studies show that changes in the L1 loop in the histone fold region of macroH2A impact the structure and potentially the function of nucleosomes.
Srinivas, Chakravarthy, Sampath Kumar Y, Gundimella, Cecile, Caron, Pierre-Yves, Perche, John R, Pehrson, Saadi, Khochbin, Karolin, Luger   +6 more
openaire   +2 more sources

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source

structural variants data

, 2022
The origin data are used to replicate our work. The topic is "Assessment of accuracy in identifying structural variants using third-generation sequencing for breast cancer in the absence of gold standard"
Qianqian Song
core   +1 more source