Results 71 to 80 of about 4,000 (206)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome [PDF]

, 2015
Background: The genetic etiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative
Abdel-Salam, Ahram, Alexander F Markham, Anglesio, Au, Carr, Chang, Christopher P Bennett, Clare V Logan, Corcoran, David A Parry, David T Bonthron, Deciphering Developmental Disorders Study, Eamonn G Sheridan, Frank J Kaiser, Gabriele Gillessen-Kaesbach, Georg C Korenke, Hadchouel, Haruta, Hibi, Hu, Ian M Carr, Kaartinen, Lachance, Lewerenz, Lisa Nalbach, Luo, Mallaret, Mulherkar, Mushtaq Ahmed, Nagase, Parry, Ronja Hollstein, Sakata, Sandeep Uppal, Schwarz, Slade, Song, Tang, Thomas Wieland, Tim M Strom, Torrino, Verity L Hartill, Yu, Zhang, Zhao   +45 more
core   +3 more sources

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline

BMC Genetics, 2003
Background Differential methylation of the two alleles is a hallmark of imprinted genes. Correspondingly, loss of DNA methyltransferase function results in aberrant imprinting and abnormal post-fertilization development.
Picton H M, Huntriss J, Hodge D, Judson H, De Vos M, Hayward B E, Sheridan E, Bonthron DT   +7 more
doaj   +1 more source

Genome-Wide Runs of Homozygosity Revealed Selection Signatures in Bos indicus

Frontiers in Genetics, 2020
Genome-wide runs of homozygosity (ROH) are suitable for understanding population history, calculating genomic inbreeding, deciphering genetic architecture of complex traits and diseases as well as identifying genes linked with agro-economic traits ...
S. P. Dixit, Sanjeev Singh, Indrajit Ganguly, Avnish Kumar Bhatia, Anurodh Sharma, N. Anand Kumar, Ajay Kumar Dang, S. Jayakumar   +7 more
doaj   +1 more source

Locating a novel autosomal recessive genetic variant in the cattle glucokinase gene using only WGS data from three cases and six carriers

Frontiers in Genetics, 2022
New Mendelian genetic conditions, which adversely affect livestock, arise all the time. To manage them effectively, some methods need to be devised that are quick and accurate.
Geoffrey E. Pollott, Richard J. Piercy, Claire Massey, Mazdak Salavati, Mazdak Salavati, Zhangrui Cheng, D. Claire Wathes   +6 more
doaj   +1 more source

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation [PDF]

, 2002
BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped.
Bond, J., Corry, P., Crow, Y., Hampshire, D.J., Jafri, H., Mannon, J., Pattison, L., Rashid, Y., Roberts, E., Springell, K., Woods, C.G.   +10 more
core   +2 more sources

Comparative evaluation of genomic inbreeding parameters in seven commercial and autochthonous pig breeds

Animal, 2020
Single nucleotide polymorphism (SNP) genotyping tools, which can analyse thousands of SNPs covering the whole genome, have opened new opportunities to estimate the inbreeding level of animals directly using genome information.
G. Schiavo, S. Bovo, F. Bertolini, S. Tinarelli, S. Dall’Olio, L. Nanni Costa, M. Gallo, L. Fontanesi   +7 more
doaj   +1 more source

“Assessing the Impact of Individual Autozygosity on Complex Traits”

, 2022
Abstract Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent ...
Megan T. Lynch, Kristin A. Maloney, Huichun Xu, James A. Perry, Alan R. Shuldiner, Braxton D. Mitchell, Regeneron Genetics Center N/A   +6 more
openaire   +1 more source

Widespread, long-term admixture between grey wolves and domestic dogs across Eurasia and its implications for the conservation status of hybrids [PDF]

, 2018
Hybridisation between a domesticated species and its wild ancestor is an important conservation problem, especially if it results in the introgression of domestic gene variants into wild species.
Greco, Claudia, Jędrzejewski, Włodzimierz, Konopiński, Maciej K., Ostrander, Elaine A., Pilot, Malgorzata, Randi, Ettore, Sidorovich, Vadim E., vonHoldt, Bridgett M., Wayne, Robert K.   +8 more
core   +2 more sources

RZooRoH: An R package to characterize individual genomic autozygosity and identify homozygous‐by‐descent segments

Methods in Ecology and Evolution, 2019
Identifying homozygous‐by‐descent (HBD) regions in individual genomes is highly valuable to infer the recent history of populations and to provide insights into trait architecture.
Amandine R. Bertrand, N. Kadri, L. Flori, M. Gautier, T. Druet   +4 more
semanticscholar   +1 more source

A genome-wide perspective about the diversity and demographic history of seven Spanish goat breeds [PDF]

, 2016
Altres ajuts: Félix Goyache is supported by Grant FICYT GRUPIN14-113. Valentin Balteanu is the recipient of a grant awarded under the frame of the European Social Fund, Human Resources Development Operational Program 2007-2013, Project No. POSDRU/159/1.5/
Agueda Pons, Amadou Traoré, Amparo Martínez, Antonia Noce, Antonio Molina, Arianna Manunza, Armand Sànchez, Eva Muñoz, Félix Goyache, Jordi Jordana, Juan Capote, Juan Manuel Serradilla, Juan Vicente Delgado, Manuel Sánchez-Rodríguez, Marcel Amills, Montse Vidilla, Tainã Figueiredo Cardoso, Valentin Balteanu, Vincenzo Landi   +18 more
core   +10 more sources