Results 31 to 40 of about 305,611 (291)
Including copy number variation in association studies to predict genotypic values [PDF]
, 2010 The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L. +2 more
core +2 more sources
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Epilepsia Open, 2023 Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation.
Nathan Buijsse +19 more
doaj +1 more source
Frontiers in Genetics, 2022 To evaluate the application potential of high-density SNPs in rice distinctness, uniformity, and stability (DUS) testing, we screened 37,929 SNP loci distributed on 12 rice chromosomes based on whole-genome resequencing of 122 rice accessions.
Hong Liu +12 more
doaj +1 more source
BMC Medical Genetics, 2019 Background MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2 ...
Jing Zhang +7 more
doaj +1 more source
Genotype-phenotype correlation of HbH disease in northern Iraq
BMC Medical Genetics, 2020 Background HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations.
Rawand P. Shamoon +3 more
doaj +1 more source
Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy
Frontiers in Neurology, 2022 IntroductionNext generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated.
Xingzhi Chang +8 more
doaj +1 more source
Crop Yield Prediction Using Deep Neural Networks [PDF]
, 2019 Crop yield is a highly complex trait determined by multiple factors such as genotype, environment, and their interactions. Accurate yield prediction requires fundamental understanding of the functional relationship between yield and these interactive ...
Khaki, Saeed, Wang, Lizhi, Wang, Lizhi
core +4 more sources
High Heritability Is Compatible with the Broad Distribution of Set Point Viral Load in HIV Carriers. [PDF]
, 2015 Set point viral load in HIV patients ranges over several orders of magnitude and is a key determinant of disease progression in HIV. A number of recent studies have reported high heritability of set point viral load implying that viral genetic factors ...
Bonhoeffer, S, Fraser, C, Leventhal, GE
core +3 more sources
Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome
Kidney International Reports, 2017 X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura +15 more
doaj +1 more source
A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis. [PDF]
, 2015 Cystic Fibrosis (CF) is a monogenic disease caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic ...
Amato, Annalisa +10 more
core +1 more source