Results 51 to 60 of about 248,303 (301)

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes. [PDF]

, 2011
Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not been comprehensively studied.
Margaret Gelder Ehm, Sharon R. Browning, Slater, Andrew J., Browning, Brian L., Aponte, Jennifer L., Browning Sharon R., Ehm, Margaret Gelder, Stephanie L Chissoe, Whittaker John C., Mooser, Vincent E., Sharon R Browning, Li, Li, Vincent E. Mooser, Jennifer L. Aponte, Brian L Browning, Li Yun, Whittaker, John C., Jennifer L Aponte, Browning, Brian L, Ehm Margaret Gelder, Browning, Sharon R, Whittaker, John C, Nelson, Matthew R, Mooser Vincent E., Aponte, Jennifer L, John C. Whittaker, Matthew R Nelson, Andrew J Slater, Vincent E Mooser, Browning Brian L., Mooser, Vincent E, Nelson Matthew R., Nelson, Matthew R., Li, Yun, John C Whittaker, Yun Li, Chissoe Stephanie L., Browning, Sharon R., Kong Xiangyang, Slater, Andrew J, Chissoe, Stephanie L, Matthew R. Nelson, Chissoe, Stephanie L., Li Li, Andrew J. Slater, Stephanie L. Chissoe, Xiangyang Kong, Slater Andrew J., Kong, Xiangyang, Aponte Jennifer L., Brian L. Browning   +50 more
core   +2 more sources

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source

Imputation of quantitative genetic interactions in epistatic MAPs by interaction propagation matrix completion [PDF]

, 2014
A popular large-scale gene interaction discovery platform is the Epistatic Miniarray Profile (E-MAP). E-MAPs benefit from quantitative output, which makes it possible to detect subtle interactions.
Zupan, Blaz, Zitnik, Marinka
core   +2 more sources

A Survey on Multivariate Time Series Imputation Using Adversarial Learning

IEEE Access
Multivariate time series (MTS) are captured in a great variety of real-world applications. However, analysing and modeling the data for classification and forecasting purposes can become very challenging if values are missing in the data set.
Anna Richter, Jyotirmaya Ijaradar, Ulf Wetzker, Vineeta Jain, Andreas Frotzscher   +4 more
doaj   +1 more source

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

FEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt, Ana‐Maria Sandru, Georg Vucak, Sebastian Didusch, Biljana Riemelmoser, Karin Ehrenreiter, Markus Hartl, Lukas A. Huber, Manuela Baccarini   +8 more
wiley   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

Molecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur, Joel Rodrigues Vitória, Manuel Saiselet, Ligia Craciun, Denis Larsimont, Anne Lefort, Frédérick Libert, Carine Maenhaut, Sabine Costagliola, Maxime Tarabichi, Mirian Romitti, Vincent Detours   +11 more
wiley   +1 more source

Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set [PDF]

, 2011
Statistical imputation of genotype data is an important technique for analysis of genome-wide association studies (GWAS). We have built a reference dataset to improve imputation accuracy for studies of individuals of primarily European descent using ...
Susan M. Gabstur, Jennifer Stone, Zhaoming Wang, Charles C. Chung, Phil Taylor, Demetrius Albanes, Ann W. Hsing, Xiang Deng, Michael A. Eberle, Daniel Stram, Amy Hutchinson, Brian E. Henderson, Margaret Tucker, Christopher Haiman, Jarmo Virtamo, Sonja I. Berndt, Brian Henderson, Mark Purdue, Susan Gabstur, Joshua Sampson, Sonja Berndt, Michael Eberle, W. Ryan Diver, Stephen Chanock, Ann Hsing, Mark P. Purdue, Lauren Teras, Kevin Jacobs, Nilanjan Chatterjee, Jennifer L. Stone, Christopher M. Haiman, Charles Chung, Meredith Yeager, Amy Hutchinson, Lauren R. Teras   +34 more
core   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Imputer: Sequence Modelling via Imputation and Dynamic Programming

CoRR, 2020
This paper presents the Imputer, a neural sequence model that generates output sequences iteratively via imputations. The Imputer is an iterative generative model, requiring only a constant number of generation steps independent of the number of input or output tokens. The Imputer can be trained to approximately marginalize over all possible alignments
William Chan, Chitwan Saharia, Geoffrey E. Hinton, Mohammad Norouzi 0002, Navdeep Jaitly   +4 more
openaire   +4 more sources