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Efforts to link variation in the human genome to phenotypes have progressed at a tremendous pace in recent decades. Most human traits have been shown to be affected by a large number of genetic variants across the genome. To interpret these associations and to use them reliably-in particular for phenotypic prediction-a better understanding of the many sources of genotype-phenotype associations is necessary. We summarize the progress that has been made in this direction in humans, notably in decomposing direct and indirect genetic effects as well as population structure confounding. We discuss the natural next steps in data collection and methodology development, with a focus on what can be gained by analyzing genotype and phenotype data from close relatives.
This article was published in the following journal.
Name: Science (New York, N.Y.)
HCM is the most common inherited cardiomyopathy. Historically, there has been poor correlation between genotype and phenotype. However, CMR has the potential to more accurately assess disease phenotyp...
Understanding genotype-phenotype relationships is fundamental in biology. With the benefit from next-generation sequencing and high-throughput phenotyping methodologies, there have been generated much...
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...
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), a...
Familial adenomatous polyposis (FAP) is a syndrome caused by germline pathogenic variants in the tumor suppressor gene adenomatous polyposis coli (APC). Identification of APC pathogenic variants sites...
The study aims at searching for a genotype-phenotype correlation in patients with a genetic pathology of the ocular surface, in order to identify genetic abnormalities associated with the ...
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...
Association of specific mutations (genotype) after sequencing the TSC1 and TSC2 gene with the clinical manifestations (phenotype) of the tuberous sclerosis complex in a cohort of clinicall...
In a separate protocol the Department of Genetic Medicine is proposing to carry out a study using gene transfer to treat the central nervous system (CNS) manifestations of late infantile n...
OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The totality of characteristics of reproductive structure, functions, PHENOTYPE, and GENOTYPE, differentiating the MALE from the FEMALE organism.
A state of intersex or sexual ambiguity, involving the GENOTYPE, the GONADS, the reproductive tract, and/or the external GENITALIA or PHENOTYPE. This concept covers TRUE HERMAPHRODITISM and PSEUDOHERMAPHRODITISM. True hermaphrodites are rare and they possess gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. Pseudohermaphrodites possess gonadal tissue of one sex but exhibit external phenotype of the opposite sex.
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
Voluntary organizations which support educational programs and research in psychiatry with the objective of the promotion of mental health. An early association in the United States was founded as the National Committee for Mental Hygiene in 1909, became the Mental Health Association in 1976 and later the National Mental Health Association in 1980. State and local mental health associations in this country are chartered by the national organization and affiliated with it.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...