Results 141 to 150 of about 4,000 (206)

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

Uncovering the Genetic Structure of the Sekler Population in Transylvania Through Genome-Wide Autosomal Data. [PDF]

Genes (Basel)
Szabó A, Bánfai Z, Sümegi K, Ádám V, Gallyas F, Kásler M, Melegh B.   +6 more
europepmc   +1 more source

Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings. [PDF]

Hum Genomics
Nuzhnaya Е, Marakhonov A, Prokhorov N, Kan N, Rodina Y, Shcherbina A, Tsygankova P, Efremovа A, Semenova N.   +8 more
europepmc   +1 more source

Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs. [PDF]

J Clin Med, 2023
Al-Mutairi DA, Alsabah BH, Pennekamp P, Omran H.   +3 more
europepmc   +1 more source

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data. [PDF]

Biology (Basel)
Watson CM, Lascelles C, Raynor M, Elpidorou M, Hany U, Crinnion L, Johnson CA, Sheridan E, Markham AF, Poulter JA, Bonthron DT, Carr IM.   +11 more
europepmc   +1 more source

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families [PDF]

, 2015

core   +1 more source

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort. [PDF]

NPJ Genom Med
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, Motevasseli T, Javanparast Sheykhani L, Dehghani M, Vahidi Mehrjardi MY, De Zaeytijd J, De Bruyne M, Mahieu Q, Al-Hajj E, Del Pozo-Valero M, Rosseel T, Van Heetvelde M, Maroofian R, Suri F, Bauwens M, De Baere E.   +20 more
europepmc   +1 more source

Fine-scale assessment of ROH patterns and genomic inbreeding in diverse horse breeds using two SNP array densities. [PDF]

BMC Vet Res
Moghbeli Damane M, Ayatollahi Mehrgardi A, Esmailizadeh A, Momen M.   +3 more
europepmc   +1 more source

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

Human Mutation, 2012
openaire   +1 more source

Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Experimental Dermatology, 2019
H. Vahidnezhad, L. Youssefian, A. Saeidian, S. Zeinali, A. Touati, M. Abiri, S. Sotoudeh, Sara Norouz-zadeh, Niloufar Amirinezhad, N. Mozafari, M. Daneshpazhooh, H. Mahmoudi, M. Hamid, J. Bradfield, Cecilia Kim, H. Hakonarson, J. Uitto   +16 more
semanticscholar   +1 more source