Results 1 to 10 of about 95,986 (246)

trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios [PDF]

open access: goldBMC Bioinformatics, 2021
Background When analyzing DNA sequence data of an individual, knowing which nucleotide was inherited from each parent can be beneficial when trying to identify certain types of DNA variants.
Dustin B. Miller, Stephen R. Piccolo
doaj   +4 more sources

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]

open access: goldNature Communications, 2019
Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is
Konstantinos Nikopoulos   +27 more
doaj   +4 more sources

Genetic mapping and developmental timing of transmission ratio distortion in a mouse interspecific backcross [PDF]

open access: yesBMC Genetics, 2010
Background Transmission ratio distortion (TRD), defined as statistically significant deviation from expected 1:1 Mendelian ratios of allele inheritance, results in a reduction of the expected progeny of a given genotype.
de Villena Fernando PM   +6 more
doaj   +5 more sources

Celer: an Efficient Program for Genotype Elimination [PDF]

open access: yesElectronic Proceedings in Theoretical Computer Science, 2010
This paper presents an efficient program for checking Mendelian consistency in a pedigree. Since pedigrees may contain incomplete and/or erroneous information, geneticists need to pre-process them before performing linkage analysis.
Nicoletta De Francesco   +2 more
doaj   +2 more sources

Breeding of Cav2.3 deficient mice reveals Mendelian inheritance in contrast to complex inheritance in Cav3.2 null mutant breeding [PDF]

open access: yesScientific Reports, 2021
High voltage-activated Cav2.3 R-type Ca2+ channels and low voltage-activated Cav3.2 T-type Ca2+ channels were reported to be involved in numerous physiological and pathophysiological processes.
Anna Papazoglou   +4 more
doaj   +2 more sources

Assessing non-Mendelian inheritance in inherited axonopathies. [PDF]

open access: yesGenet Med, 2020
Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia [HSP]) and peripheral (Charcot-Marie-Tooth type 2 [CMT2]) nervous systems.
Bis-Brewer DM   +19 more
europepmc   +7 more sources

Efficient allelic-drive in Drosophila [PDF]

open access: yesNature Communications, 2019
Gene-drives use CRISPR-Cas9 to be transmitted in a super-Mendelian fashion. Here the authors develop an allelic-drive for selective inheritance of a desired allele.
Annabel Guichard   +9 more
doaj   +4 more sources

Clarifying Mendelian vs non-Mendelian inheritance. [PDF]

open access: yesGenetics
Abstract Gregor Mendel developed the principles of segregation and independent assortment in the mid-1800s based on his detailed analysis of several traits in pea plants. Those principles, now called Mendel's laws, in fact, explain the behavior of genes and alleles during meiosis and are now understood to underlie “Mendelian inheritance”
Strome S   +4 more
europepmc   +4 more sources

Home - About - Disclaimer - Privacy