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Biostatistics are the development and application of statistical methods to a wide range of topics in biology. It encompasses the design of biological experiments, the collection and analysis of data from those experiments and the interpretation of the results.
The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affect the psyche adversely.
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems, and periods of high blood calcium are common.
Trigonocephaly is a congenital condition of premature fusion of the metopic suture, leading to a triangular forehead. The merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur syndromic, involving other abnormalities, or isolated. The term is from the Greek trigonon, "triangle", and kephale, "head".
Physiognomy is the practice of assessing a person's character or personality from their outer appearance—especially the face. The term can also refer to the general appearance of a person, object, or terrain without reference to its implied characteristics—as in the physiognomy of an individual plant or of a plant community.
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
In genetics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome and is present in a sufficiently large fraction of the population. Single nucleotide substitutions with an allele frequency of less than 1% are called "single-nucleotide variants", not SNPs.
A facial recognition system is a technology capable of matching a human face from a digital image or a video frame against a database of faces. Such a system is typically employed to authenticate users through ID verification services, and works by pinpointing and measuring facial features from a given image.
Adrenocortical carcinoma (ACC) is an aggressive cancer originating in the cortex of the adrenal gland.
UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006.
Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human, adult onset, autosomal dominant genetic disorder caused by the FLCN gene. It can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung. Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors.
The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether autism spectrum disorder (ASD) is explained more by multigene interactions or by rare mutations with major effects.
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.
Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood.
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.
In genetics, a polygenic score (PGS), also called a polygenic index (PGI), polygenic risk score (PRS), genetic risk score, or genome-wide score, is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype, typically calculated as a weighted sum of trait-associated alleles. It reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. In other words, it gives an estimate of how likely an individual is to have a given trait only based on genetics, without taking environmental factors into account. Polygenic scores are widely used in animal breeding and plant breeding due to their efficacy in improving livestock breeding and crops. In humans, polygenic scores are typically generated from genome-wide association study (GWAS) data.
Perturb-seq refers to a high-throughput method of performing single cell RNA sequencing (scRNA-seq) on pooled genetic perturbation screens. Perturb-seq combines multiplexed CRISPR mediated gene inactivations with single cell RNA sequencing to assess comprehensive gene expression phenotypes for each perturbation. Inferring a gene’s function by applying genetic perturbations to knock down or knock out a gene and studying the resulting phenotype is known as reverse genetics. Perturb-seq is a reverse genetics approach that allows for the investigation of phenotypes at the level of the transcriptome, to elucidate gene functions in many cells, in a massively parallel fashion.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.
References
- ↑ Hustinx, Alexander; Hellmann, Fabio; Sümer, Ömer; Javanmardi, Behnam; André, Elisabeth; Krawitz, Peter; Hsieh, Tzung-Chien (2023). "Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles". 2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV). pp. 5018–5028. arXiv: 2211.06764 . doi:10.1109/WACV56688.2023.00499. ISBN 978-1-6654-9346-8. S2CID 253510768.
- ↑ Sümer, Ömer; Hellmann, Fabio; Hustinx, Alexander; Hsieh, Tzung-Chien; André, Elisabeth; Krawitz, Peter (2022-10-23). "Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders". arXiv: 2210.12705 [cs.CV].
- ↑ Hsieh, Tzung-Chien; Bar-Haim, Aviram; Moosa, Shahida; Ehmke, Nadja; Gripp, Karen W.; Pantel, Jean Tori; Danyel, Magdalena; Mensah, Martin Atta; Horn, Denise; Rosnev, Stanislav; Fleischer, Nicole; Bonini, Guilherme; Hustinx, Alexander; Schmid, Alexander; Knaus, Alexej (March 2022). "GestaltMatcher facilitates rare disease matching using facial phenotype descriptors". Nature Genetics. 54 (3): 349–357. doi:10.1038/s41588-021-01010-x. ISSN 1061-4036. PMC 9272356 . PMID 35145301.