Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Alan P Boyle"'
Autor:
Bradley Crone, Alan P Boyle
Publikováno v:
PLoS Genetics, Vol 20, Iss 8, p e1011356 (2024)
Portability of trans-ancestral polygenic risk scores is often confounded by differences in linkage disequilibrium and genetic architecture between ancestries. Recent literature has shown that prioritizing GWAS SNPs with functional genomic evidence ov
Externí odkaz:
https://doaj.org/article/2abec548b23d4100811fdaa17aa172a4
Autor:
Monica J Holmes, Babak Mahjour, Christopher P Castro, Gregory A Farnum, Adam G Diehl, Alan P Boyle
Publikováno v:
PLoS ONE, Vol 19, Iss 3, p e0298688 (2024)
Understanding the functional effects of sequence variation is crucial in genomics. Individual human genomes contain millions of variants that contribute to phenotypic variability and disease risks at the population level. Because variants rarely act
Externí odkaz:
https://doaj.org/article/16e490755cc043b8a1e0ef066ae7f09b
Autor:
Jessica C. McAfee, Sool Lee, Jiseok Lee, Jessica L. Bell, Oleh Krupa, Jessica Davis, Kimberly Insigne, Marielle L. Bond, Nanxiang Zhao, Alan P. Boyle, Douglas H. Phanstiel, Michael I. Love, Jason L. Stein, W. Brad Ruzicka, Jose Davila-Velderrain, Sriram Kosuri, Hyejung Won
Publikováno v:
Cell Genomics, Vol 3, Iss 10, Pp 100404- (2023)
Summary: Genome-wide association studies (GWASs) have successfully identified 145 genomic regions that contribute to schizophrenia risk, but linkage disequilibrium makes it challenging to discern causal variants. We performed a massively parallel rep
Externí odkaz:
https://doaj.org/article/8699b54b8aa149bd9c2642416266fe09
Autor:
Sierra S. Nishizaki, Alan P. Boyle
Publikováno v:
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-14 (2022)
Abstract Motivation Aberrant DNA methylation in transcription factor binding sites has been shown to lead to anomalous gene regulation that is strongly associated with human disease. However, the majority of methylation-sensitive positions within tra
Externí odkaz:
https://doaj.org/article/cb121f03249d4f25ad302ccd16382a07
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100210- (2023)
Summary: Understanding the genetic basis for complex, heterogeneous disorders, such as autism spectrum disorder (ASD), is a persistent challenge in human medicine. Owing to their phenotypic complexity, the genetic mechanisms underlying these disorder
Externí odkaz:
https://doaj.org/article/91b6f029603f4a8eaf5fa8fd25ce7a4f
Autor:
Tingting Qin, Christopher Lee, Shiting Li, Raymond G. Cavalcante, Peter Orchard, Heming Yao, Hanrui Zhang, Shuze Wang, Snehal Patil, Alan P. Boyle, Maureen A. Sartor
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-30 (2022)
Abstract Background Revealing the gene targets of distal regulatory elements is challenging yet critical for interpreting regulome data. Experiment-derived enhancer-gene links are restricted to a small set of enhancers and/or cell types, while the ac
Externí odkaz:
https://doaj.org/article/3b4ff7a18c63408e970ba0ae1b45ae0f
Autor:
Yuwei Bao, Jack Wadden, John R. Erb-Downward, Piyush Ranjan, Weichen Zhou, Torrin L. McDonald, Ryan E. Mills, Alan P. Boyle, Robert P. Dickson, David Blaauw, Joshua D. Welch
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-16 (2021)
Abstract We present SquiggleNet, the first deep-learning model that can classify nanopore reads directly from their electrical signals. SquiggleNet operates faster than DNA passes through the pore, allowing real-time classification and read ejection.
Externí odkaz:
https://doaj.org/article/400a7cdd3e9a4dc1a17cb22271f19b24
Autor:
Torrin L. McDonald, Weichen Zhou, Christopher P. Castro, Camille Mumm, Jessica A. Switzenberg, Ryan E. Mills, Alan P. Boyle
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Mobile element insertions (MEIs) are a source of repetitive genetic variation and can lead to genetic disorders. Here the authors use Cas9-targeted nanopore sequencing to efficiently saturate enrichment for known and non-reference MEIs.
Externí odkaz:
https://doaj.org/article/c87dab68727b4dfeabb3b16502eb685a
Autor:
Adam G. Diehl, Alan P. Boyle
Publikováno v:
BMC Bioinformatics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Comparative genomics studies are growing in number partly because of their unique ability to provide insight into shared and divergent biology between species. Of particular interest is the use of phylogenetic methods to infer the
Externí odkaz:
https://doaj.org/article/c47afe58893b4a1399e733c5112b2cfe
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
A fraction of mammalian CTCF binding sites fall within transposable elements (TEs) but their contribution to the evolution of 3D chromatin structure is unknown. Here the authors investigate the effect of TE-driven CTCF binding site expansions on chro
Externí odkaz:
https://doaj.org/article/92a43e8e744343bfb98662cec180788a