Results 81 to 90 of about 1,564 (152)

Assessment of Autozygosity Derived From Runs of Homozygosity in Jinhua Pigs Disclosed by Sequencing Data

Frontiers in Genetics, 2019
Jinhua pig, a well-known Chinese indigenous breed, has evolved as a pig breed with excellent meat quality, greater disease resistance, and higher prolificacy.
Zhong Xu, Hao Sun, Zhe Zhang, Qingbo Zhao, Babatunde Shittu Olasege, Qiumeng Li, Yang Yue, Peipei Ma, Xiangzhe Zhang, Qishan Wang, Yuchun Pan, Yuchun Pan   +11 more
doaj   +1 more source

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

PLoS ONE, 2017
Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases.
Edoardo Giacopuzzi, Massimo Gennarelli, Alessandra Minelli, Rita Gardella, Paolo Valsecchi, Michele Traversa, Cristian Bonvicini, Antonio Vita, Emilio Sacchetti, Chiara Magri   +9 more
doaj   +1 more source

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. [PDF]

Nat Genet
Kim HI, DeBoever C, Walter K, Kalantzis G, Li C, Mozaffari SV, Kundu K, Jacobs BM, Mohammadi-Shemirani P, Musolf AM, Davitte JM, Aksit MA, Gafton J, Catalano KA, Dawed AY, Graham RR, Guo B, Gupta N, Heng TH, Hunt KA, Iyer V, Langenberg C, Lassen FH, MacArthur DG, Maher ER, Maroteau C, Newman WG, O'Rahilly S, Palmer DS, Popov I, Siddiqui MK, Simpson MA, Spreckley M, Wright J, Genes and Health Research Team, Del Angel G, Petrovski S, Holzinger ER, Maranville JC, Addis L, Turner RM, Estrada K, Longerich S, Howson JMM, Jamshidi Y, Fauman EB, Miller MR, Diogo D, Trembath RC, Finer S, Martin HC, van Heel DA.   +51 more
europepmc   +2 more sources

A homozygous missense variant, p.Ser166Leu in the <i>PRPF40B</i> gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor. [PDF]

Front Neurol
Onat OE, Sonti S, Robakis D, Tekinay AB, Akbostanci C, Durmaz Celik FN, Ozcelik T, Clark LN.   +7 more
europepmc   +1 more source

Whole Exome Sequencing as a Tool for Autozygosity Mapping [PDF]

Human Mutation, 2012
openaire   +1 more source

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window. [PDF]

Mol Neurobiol
Owrang D, Rad A, Alerasool M, Kolb SM, Lin SJ, Doll J, Alidadiani N, Ghaderi S, Hofrichter MAH, Maroofian R, Varshney GK, Mojarrad M, Bartsch O, Haaf T, Vona B.   +14 more
europepmc   +1 more source

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. [PDF]

Journal of Medical Genetics, 1993
R F, Mueller, D T, Bishop
openaire   +2 more sources

Genetic Architecture of Hock Joint Bumps in Pigs: Insights from ROH and GWAS Analyses. [PDF]

Animals (Basel)
Getmantseva L, Kolosova M, Shevtsova V, Kolosov A, Bakoev F, Romanets E, Romanets T, Bakoev S.   +7 more
europepmc   +1 more source

A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals. [PDF]

Proc Natl Acad Sci U S A
Massilani D, Peyrégne S, Iasi LNM, de Filippo C, Mafessoni F, Bossoms Mesa A, Sümer AP, Swiel Y, Popli D, Silverman S, Boyle MJ, Kozlikin MB, Shunkov MV, Derevianko AP, Higham T, Douka K, Meyer M, Zeberg H, Kelso J, Pääbo S.   +19 more
europepmc   +1 more source

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source