Results 1 to 10 of about 2,462,103 (310)

Balancing selection on genomic deletion polymorphisms in humans

eLife, 2023
A key question in biology is why genomic variation persists in a population for extended periods. Recent studies have identified examples of genomic deletions that have remained polymorphic in the human lineage for hundreds of millennia, ostensibly owing
Alber Aqil, Leo Speidel, Pavlos Pavlidis, Omer Gokcumen   +3 more
doaj   +1 more source

Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs

Nature Communications, 2021
Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph.
Tsung-Yu Lu, The Human Genome Structural Variation Consortium, Mark J. P. Chaisson   +2 more
doaj   +1 more source

The effects of common structural variants on 3D chromatin structure

BMC Genomics, 2020
Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs).
Omar Shanta, Amina Noor, Human Genome Structural Variation Consortium (HGSVC), Jonathan Sebat   +3 more
doaj   +1 more source

Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data [PDF]

Genomics & Informatics, 2019
While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate.
Yuna Lee, Kiejung Park, Insong Koh
doaj   +1 more source

Telomere-to-Telomere Genome Sequences across a Single Genus Reveal Highly Variable Chromosome Rearrangement Rates but Absolute Stasis of Chromosome Number

Journal of Fungi, 2022
Genome rearrangements in filamentous fungi are prevalent but little is known about the modalities of their evolution, in part because few complete genomes are available within a single genus.
Mathieu Quenu, Artemis D. Treindl, Kate Lee, Daigo Takemoto, Torsten Thünen, Samad Ashrafi, David Winter, Austen R. D. Ganley, Adrian Leuchtmann, Carolyn A. Young, Murray P. Cox   +10 more
doaj   +1 more source

A Mixed Valence Co^IICo^III₂ Field-Supported Single Molecule Magnet: Solvent-Dependent Structural Variation

Molecules, 2021
One-pot reaction of the Schiff base N,N’-ethylene bis(salicylaldimine) (H2L), CoCl2.6H2O, and [Ph2SnCl2] in acetone produces the mixed valence CoIICoIII2 compound [CoIICoIII2(μ-L)2(Ph)2(μ-Cl)2]·(CH3)2CO·H2O (1). Our recent study already revealed that the
Susanta Hazra, Cyril Rajnák, Ján Titiš, M. Fátima C. Guedes da Silva, Roman Boča, Armando J. L. Pombeiro   +5 more
doaj   +1 more source

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
doaj   +1 more source

PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

Frontiers in Genetics, 2021
Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. These difficult to sequence regions include several clinically
Zachary Stephens, Dragana Milosevic, Benjamin Kipp, Stefan Grebe, Ravishankar K. Iyer, Jean-Pierre A. Kocher   +5 more
doaj   +1 more source

Louse (Insecta : Phthiraptera) mitochondrial 12S rRNA secondary structure is highly variable [PDF]

, 2002
Lice are ectoparasitic insects hosted by birds and mammals. Mitochondrial 12S rRNA sequences obtained from lice show considerable length variation and are very difficult to align.
Billoud B., Collins L.J., Corpet F., Critchlow D.E., Day W.H.E., Fontana W., Gutell R.R., Hafner M.S., Hafner M.S., Hickson R.E., Hickson R.E., Hofacker I.L., Houde P., Johnson K.P., Johnson K.P., K. P. Johnson, Konings D.A.M., Lenhof H.-P., Lockhart P.J., Mindell D.P., Moran N.A., Page R.D.M., Page R.D.M., Page R.D.M., R. Cruickshank, R. D. M. Page, Shao R., Simon C., Springer M.S., Stoye J., Swofford D.L., Wheeler W.C.   +31 more
core   +2 more sources

Information structural notions and the fallacy of invariant correlates [PDF]

, 2008
In a first step, definitions of the irreducible information structural categories are given, and in a second step, it is shown that there are no invariant phonological or otherwise grammatical correlates of these categories. In other words, the phonology,
Féry, Caroline
core   +1 more source