Results 21 to 30 of about 864,768 (299)

svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data

GigaByte, 2022
Nuclear integration of mitochondrial genomes and retrocopied transcript insertion are biologically important but often-overlooked aspects of structural variant (SV) annotation.
Ruining Dong , Daniel Cameron , Justin Bedo , Anthony T. Papenfuss   +3 more
doaj   +1 more source

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

Structural variant evolution after telomere crisis

Nature Communications, 2021
Telomere crisis has been shown to induce chromothripsis and breakage fusion bridge (BFB) cycles in vitro. Here, the authors show that telomere crisis generates a much broader spectrum of structural variations, implying that cancers without chromothripsis
Sally M. Dewhurst, Xiaotong Yao, Joel Rosiene, Huasong Tian, Julie Behr, Nazario Bosco, Kaori K. Takai, Titia de Lange, Marcin Imieliński   +8 more
doaj   +1 more source

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]

, 2019
BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek, Chu, Catherine, Gonzaludo, Nina, Grenville, Zoe, Kane, John P, Kwok, Pui-Yan, Lao, Richard, Levy-Sakin, Michal, Ma, Walfred, Mak, Angel CY, Malloy, Mary J, Poon, Annie, Pullinger, Clive R, Vaka, Dedeepya, Wong, Karen HY, Wong, Nicolas   +15 more
core   +1 more source

Spatially variant periodic structures in electromagnetics [PDF]

Philosophical Transactions of the Royal Society A: Mathematical, Physical and Engineering Sciences, 2015
Spatial transforms are a popular technique for designing periodic structures that are macroscopically inhomogeneous. The structures are often required to be anisotropic, provide a magnetic response, and to have extreme values for the constitutive parameters in Maxwell's equations.
Rumpf, Raymond C., Pazos, Javier J., Digaum, Jennefir L., Kuebler, Stephen M.   +3 more
openaire   +3 more sources

On the strictness of the quantifier structure hierarchy in first-order logic [PDF]

, 2014
We study a natural hierarchy in first-order logic, namely the quantifier structure hierarchy, which gives a systematic classification of first-order formulas based on structural quantifier resource.
He, Yuguo
core   +1 more source

SARS-CoV CH.1.1 Variant: Genomic and Structural Insight

Infectious Disease Reports, 2023
In early February 2023, the Omicron subvariant XBB.1.5, also known as “Kraken”, accounted for more than 44% of new COVID-19 cases worldwide, whereas a relatively new Omicron subvariant named CH.1.1, deemed “Orthrus”, accounted for less than 6% of new ...
Liliana Bazzani, Elena Imperia, Fabio Scarpa, Daria Sanna, Marco Casu, Alessandra Borsetti, Stefano Pascarella, Nicola Petrosillo, Eleonora Cella, Marta Giovanetti, Massimo Ciccozzi   +10 more
doaj   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication

BMC Genomics, 2020
Background Advances in genome technology have simplified a new comprehension of the genetic and historical processes crucial to rapid phenotypic evolution under domestication. To get new insight into the genetic basis of the dog domestication process, we
Zeinab Amiri Ghanatsaman, Guo-Dong Wang, Hojjat Asadollahpour Nanaei, Masood Asadi Fozi, Min-Sheng Peng, Ali Esmailizadeh, Ya-Ping Zhang   +6 more
doaj   +1 more source

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) [PDF]

, 2017
PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5’-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and
Carducci, Carla, Contestabile, Roberto, Di Salvo, Martino L., Guerrini, Renzo, Leuzzi, Vincenzo, Mastrangelo, Mario, Mei, Davide, Montomoli, Martino, Nogués, Isabel, Paiardini, Alessandro, Tolve, Manuela, Tramonti, Angela   +11 more
core   +2 more sources