Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

1996 ◽  
Vol 4 (3) ◽  
pp. 160-167 ◽  
Author(s):  
Merete Bugge ◽  
Elisabeth Blennow ◽  
Ursula Friedrich ◽  
Michael B. Petersen ◽  
Florence Pedeutour ◽  
...  
Keyword(s):  
De Novo ◽  
Parental Origin ◽  
Tetrasomy 18P ◽  
Mechanisms Of Formation

Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing

1996 ◽  
Vol 97 (5) ◽  
pp. 568-572 ◽  
Author(s):  
Thomas Eggermann ◽  
Hartmut Engels ◽  
Barbara Moskalonek ◽  
Markus M. Nöthen ◽  
Jutta Müller-Navia ◽  
...  
Keyword(s):  
De Novo ◽  
Parental Origin ◽  
Short Sequence ◽  
Sequence Repeat ◽  
Short Sequence Repeat ◽  
Tetrasomy 18P

Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing

1996 ◽  
Vol 97 (5) ◽  
pp. 568-572 ◽  
Author(s):  
Thomas Eggermann ◽  
H. Engels ◽  
Barbara Moskalonek ◽  
Markus M. Nöthen ◽  
Jutta Müller-Navia ◽  
...  
Keyword(s):  
De Novo ◽  
Parental Origin ◽  
Short Sequence ◽  
Sequence Repeat ◽  
Short Sequence Repeat ◽  
Tetrasomy 18P

scholarly journals De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

2011 ◽  
Vol 20 (2) ◽  
pp. 155-160 ◽  
Author(s):  
Charlene Sibbons ◽  
Joan K Morris ◽  
John A Crolla ◽  
Patricia A Jacobs ◽  
N Simon Thomas
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Parental Origin ◽  
Mechanisms Of Formation

scholarly journals A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning

GigaScience ◽  
2020 ◽  
Vol 9 (8) ◽  
Author(s):  
Eugenie C Yen ◽  
Shane A McCarthy ◽  
Juan A Galarza ◽  
Tomas N Generalovic ◽  
Sarah Pelan ◽  
...  
Keyword(s):  
Population Structure ◽  
Genome Assembly ◽  
De Novo ◽  
Consensus Sequence ◽  
Parental Origin ◽  
De Novo Genome Assembly ◽  
Geographic Population ◽  
Long Reads ◽  
Tiger Moth ◽  
Innovative Solution

ABSTRACT Background Diploid genome assembly is typically impeded by heterozygosity because it introduces errors when haplotypes are collapsed into a consensus sequence. Trio binning offers an innovative solution that exploits heterozygosity for assembly. Short, parental reads are used to assign parental origin to long reads from their F1 offspring before assembly, enabling complete haplotype resolution. Trio binning could therefore provide an effective strategy for assembling highly heterozygous genomes, which are traditionally problematic, such as insect genomes. This includes the wood tiger moth (Arctia plantaginis), which is an evolutionary study system for warning colour polymorphism. Findings We produced a high-quality, haplotype-resolved assembly for Arctia plantaginis through trio binning. We sequenced a same-species family (F1 heterozygosity ∼1.9%) and used parental Illumina reads to bin 99.98% of offspring Pacific Biosciences reads by parental origin, before assembling each haplotype separately and scaffolding with 10X linked reads. Both assemblies are contiguous (mean scaffold N50: 8.2 Mb) and complete (mean BUSCO completeness: 97.3%), with annotations and 31 chromosomes identified through karyotyping. We used the assembly to analyse genome-wide population structure and relationships between 40 wild resequenced individuals from 5 populations across Europe, revealing the Georgian population as the most genetically differentiated with the lowest genetic diversity. Conclusions We present the first invertebrate genome to be assembled via trio binning. This assembly is one of the highest quality genomes available for Lepidoptera, supporting trio binning as a potent strategy for assembling heterozygous genomes. Using our assembly, we provide genomic insights into the geographic population structure of A. plantaginis.

Parental origin of de novo chromosome rearrangements

1980 ◽  
Vol 53 (3) ◽  
pp. 343-347 ◽  
Author(s):  
J. Chamberlin ◽  
R. E. Magenis
Keyword(s):  
De Novo ◽  
Chromosome Rearrangements ◽  
Parental Origin

scholarly journals Field Study of the Possible Effect of Parental Irradiation on the Germline of Children Born to Cleanup Workers and Evacuees of the Chornobyl Nuclear Accident

2020 ◽  
Vol 189 (12) ◽  
pp. 1451-1460
Author(s):  
Dimitry Bazyka ◽  
Maureen Hatch ◽  
Natalia Gudzenko ◽  
Elizabeth K Cahoon ◽  
Vladimir Drozdovitch ◽  
...  
Keyword(s):  
Atomic Bomb ◽  
De Novo ◽  
Measurement Data ◽  
Nuclear Accident ◽  
Parental Origin ◽  
High Dose ◽  
De Novo Mutations ◽  
Transgenerational Effects ◽  
Genomic Alterations ◽  
Cleanup Workers

Abstract Although transgenerational effects of exposure to ionizing radiation have long been a concern, human research to date has been confined to studies of disease phenotypes in groups exposed to high doses and high dose rates, such as the Japanese atomic bomb survivors. Transgenerational effects of parental irradiation can be addressed using powerful new genomic technologies. In collaboration with the Ukrainian National Research Center for Radiation Medicine, the US National Cancer Institute, in 2014–2018, initiated a genomic alterations study among children born in selected regions of Ukraine to cleanup workers and/or evacuees exposed to low–dose-rate radiation after the 1986 Chornobyl (Chernobyl) nuclear accident. To investigate whether parental radiation exposure is associated with germline mutations and genomic alterations in the offspring, we are collecting biospecimens from father-mother-offspring constellations to study de novo mutations, minisatellite mutations, copy-number changes, structural variants, genomic insertions and deletions, methylation profiles, and telomere length. Genomic alterations are being examined in relation to parental gonadal dose, reconstructed using questionnaire and measurement data. Subjects are being recruited in exposure categories that will allow examination of parental origin, duration, and timing of exposure in relation to conception. Here we describe the study methodology and recruitment results and provide descriptive information on the first 150 families (mother-father-child(ren)) enrolled.

Parental origin and functional relevance of a de novo UBE3A variant

2011 ◽  
Vol 54 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Bernhard Horsthemke ◽  
Michaela Wawrzik ◽  
Stephanie Groß ◽  
Christina Lich ◽  
Birgitta Sauer ◽  
...  
Keyword(s):  
De Novo ◽  
Parental Origin ◽  
Functional Relevance

Parental origin and mechanisms of formation of three eases of 12p tetrasomy

2008 ◽  
Vol 50 (1) ◽  
pp. 41-46 ◽  
Author(s):  
Catherine Turleau ◽  
Brigitte Simon-Bouy ◽  
Estelle Austruy ◽  
Marie-Claude Grisard ◽  
Françoise Lemaire ◽  
...  
Keyword(s):  
Parental Origin ◽  
Mechanisms Of Formation

scholarly journals Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

2003 ◽  
Vol 12 (1) ◽  
pp. 52-58 ◽  
Author(s):  
Stefan Aretz ◽  
Siegfried Uhlhaas ◽  
Reiner Caspari ◽  
Elisabeth Mangold ◽  
Constanze Pagenstecher ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Parental Origin ◽  
Adenomatous Polyposis ◽  
Apc Mutations
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