Results 201 to 210 of about 443,633 (293)

The <i>penetrance</i> R package for estimation of age specific risk in family-based studies. [PDF]

Bioinform Adv
Kubista N, Braun D, Parmigiani G.
europepmc   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted between April‐2017 and March‐2021. In total, 46,007 women received a normal cfDNA screening result.
Adriana I. Iglesias, Diane Van Opstal, Florentine F. Thurik, Mark Drost, Marjolein J. A. Weerts, Marieke Joosten, Karin E. M. Diderich, Vyne van der Schoot, Myrthe van den Born, Robert‐Jan H. Galjaard, Stefanie van Veen, Eveline Goedegebuur‐Zwalua, Sabina de Weerd, Anneke Dijkman, Dimitri Papatsonis, Jérôme M. J. Cornette, Sander Galjaard, Maarten F. C. M. Knapen, Krista Prinsen, Attie T. J. I. Go, Kyra E. Stuurman, Malgorzata I. Srebniak   +21 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways. [PDF]

NPJ Genom Med
Tuncay IO, Lee EK, Gustafson A, Lee Y, Jung D, Koh JY, Lee W, Lee S, Shazand K.   +8 more
europepmc   +1 more source

Characterizing season‐long floral trajectories in cotton with low‐altitude remote sensing and deep learning

PLANTS, PEOPLE, PLANET, EarlyView.
Plant breeding is a critical tool for increasing the productivity, climate resilience, and sustainability of agriculture, but current phenotyping methods are a bottleneck due to the amount of human labor involved. Here, we demonstrate high‐throughput phenotyping with an unmanned aerial vehicle (UAV) to analyze the season‐long flowering pattern in ...
Jeevan Adhikari, Daniel Petti, Deepak Vitrakoti, Wiriyanat Ployaram, Changying Li, Andrew H. Paterson   +5 more
wiley   +1 more source

Application of Whole-Exome Sequencing (WES) for Prenatal Determination of Causes of Fetal Abnormalities. [PDF]

Genes (Basel)
Guseva M, Shirokova N, Kapitonova O, Gnetetskaya V, Blagodatskikh K, Tarasova J, Kaimonov V, Korbut A, Musatova E.   +8 more
europepmc   +1 more source

Protein Target Highlights in CASP16: Insights From the Structure Providers

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT This article presents an in‐depth analysis of selected CASP16 targets, with a focus on their biological and functional significance. The authors highlight the most relevant features of the target proteins and discuss how well these were reproduced in the submitted predictions.
Leila T. Alexander, Océane M. Follonier, Andriy Kryshtafovych, Kim Abesamis, Sabrina Bibi‐Triki, Henry G. Box, Cécile Breyton, Françoise Bringel, Loic Carrique, Alessio d'Acapito, Gang Dong, Rebecca DuBois, Deborah Fass, Juliana Martinez Fiesco, Daniel R. Fox, Jonathan M. Grimes, Rhys Grinter, Matthew Jenkins, Roman Kamyshinsky, Jeremy R. Keown, Gerald Lackner, Michael Lammers, Shiheng Liu, Andrew L. Lovering, Tomas Malinauskas, Benoît Masquida, Gottfried J. Palm, Christian Siebold, Tiantian Su, Ping Zhang, Z. Hong Zhou, Krzysztof Fidelis, Maya Topf, John Moult, Torsten Schwede   +34 more
wiley   +1 more source

Research on optimization of transportation routes for infectious medical waste. [PDF]

PLoS One
Hao C, Libo LI, Xuerui Q, Wenxian W.
europepmc   +1 more source

Iterative Modeling via Structural Diffusion (IMSD): Exploring Fold‐Switching Pathways in Metamorphic Proteins Using AlphaFold2‐Based Generative Diffusion Model UFConf

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Metamorphic proteins (MPs) can fold into two or more distinct spatial structures. Increasing interest in MPs has spurred the search for computational tools to predict proteins fold‐switching potential and model their refolding pathways. Here we address this problem by using the recently reported generative diffusion predictor UFConf, based on ...
Dmitrii A. Luzik, Nikolai R. Skrynnikov
wiley   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies. [PDF]

Epilepsia Open
Barcia G, Chemaly N, Gobin-Limballe S, Losito E, Aubart M, Sarda E, Assouline Z, Plante-Bordeneuve P, Hully M, Barrois R, Barnerias C, Sareidaki D, Zeitoun DC, Eisermann M, Fourrage C, Hanein S, Rio M, Boddaert N, Desguerre I, Kaminska A, Steffann J, Nabbout R.   +21 more
europepmc   +1 more source