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Sequences remaining within RNA after RNA splicing
The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed
Exome
Sequencing of all the exons of a genome
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome
Exome_sequencing
American biotechnology company
genomic diagnostics, with a focus on whole genome sequencing (WGS) and whole exome sequencing (WES) for the diagnosis of rare and inherited disorders. The
GeneDx
American population genomics company
called Exome+, a version of Exome sequencing which according to the company provides 100 times more data than was previously available. Exome+ includes
Helix_(genomics_company)
Region of a transcribed gene present in the final functional mRNA molecule
species constitutes the genome, the entire set of exons constitutes the exome. The term exon is a shortening of the phrase expressed region and was coined
Exon
Link between a disease and the causal genetic entity
i.e. with the sequences of the actual genomes or exomes via whole genome sequencing or whole exome sequencing. Before 2010, DNA sequencing methods were
Genetic_association
Medical condition
only be conducted by a performance of an IQ test score of below 70. Whole exome sequencing (WES) can be used as a non-biased tool in the diagnostic evaluation
ZTTK_syndrome
Medical condition
are being studied and characterized. With the increasing utilization of exome and whole genome sequencing, it is anticipated that many more individuals
DeSanto–Shinawi_syndrome
sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify
Personalized_genomics
Researchers may use Y-DNA, mtDNA, other autosomal DNA, whole genome, or whole exome information to identify the genetic history of ancient and modern populations
Genetic history of the Middle East
Genetic_history_of_the_Middle_East
Protein-coding gene in the species Homo sapiens
through whole-exome sequencing, it was discovered that SAMS is the result of a mutation of the GSC gene. The data collected from the whole-exome sequencing
Homeobox_protein_goosecoid
Measure of population differentiation
populations. Pairwise Fst values among several populations based on whole exome sequencing (WES) in 2016: Arlequin Fstat SMOGD diveRsity (R package) hierfstat
Fixation_index
Julie C; Dorward, Heidi M; Huizing, Marjan; Barshop, Bruce A (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic
List_of_genetic_disorders
Sequencing all the DNA of an individual at once
that sequence specific subsets of the genome – such methods include whole exome sequencing (1–2% of the genome) or SNP genotyping (< 0.1% of the genome)
Whole_genome_sequencing
Rare genetic syndrome
has been the diagnostic tool of choice. The falling cost for the whole exome sequencing and, eventually, whole genome sequencing, may replace DNA microarray
22q13_deletion_syndrome
Rare genetic disorder
genomic testing such as exome or whole genome sequencing—which can discover a broader range of genetic variants—are also used. Exome sequencing is used most
Skraban–Deardorff_syndrome
Branch of medicine caring for children
example, unsolicited findings (U.F.s) of pediatric exome sequencing. They are findings based on pediatric exome sequencing that explain in greater detail the
Pediatrics
Breed of domestic cat
Lyons, Leslie A.; Warren, Wesley C. (30 March 2021). "A domestic cat whole exome sequencing resource for trait discovery". Scientific Reports. 11 (1): 7159
Neva_Masquerade
Rare form of cancer
McDermott U, Stratton MR, Campbell PJ, El-Naggar AK, Futreal PA (2013). "Whole exome sequencing of adenoid cystic carcinoma". J Clin Invest. 123 (7): 2965–8
Adenoid_cystic_carcinoma
American geneticist
Charles; Pietsch, John; Lim, Foong-Yen; Bucher, Brian (2014-03-01). "Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital
Wendy_Chung
Genetic mutation not inherited from a parent
Some types of next generation sequencing is whole genome sequencing, whole exome sequencing and deep sequencing. Whole genome sequencing (WGS) is the most
De_novo_mutation
Overproduction of red blood cells by the bone marrow
Hirvonen EA, Pitkänen E, Hemminki K, Aaltonen LA, Kilpivaara O (2017). "Whole-exome sequencing identifies novel candidate predisposition genes for familial
Polycythemia_vera
Genetic disorder
chondrodysplasia Grebe type is hard to diagnose. Genetic testing, usually exome sequencing, is used to identify the mutation to the GDF5 gene. "Chondrodysplasia
Chondrodysplasia,_Grebe_type
Protein found in humans
of simvastatin based on SLCO1B1 gene variant using genotyping or whole exome sequencing. Solute carrier family GRCh38: Ensembl release 89: ENSG00000134538
Solute carrier organic anion transporter family member 1B1
Solute_carrier_organic_anion_transporter_family_member_1B1
Molecule triggering an immune response
can identify mutations within the protein-coding part of the genome (the exome) and predict potential neoantigens. In mice models, for all novel protein
Antigen
Hypothetical West African archaeogenetic lineage
OCLC 1182512815. S2CID 226555687. Wonkam, Ambroise; et al. (2022). "Exome sequencing of families from Ghana reveals known and candidate hearing impairment
Basal_West_African
Protein-coding gene in the species Homo sapiens
Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (October 2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary
Synaptonemal complex central element protein 1
Synaptonemal_complex_central_element_protein_1
Rare genetic disorder
pathogenic, or variant of unknown significance in the DHX30 gene. Whole exome sequencing or whole genome sequencing is commonly used. Currently, treatment
DHX30_syndrome
Complete set of nucleic acid sequences for humans
very beginnings. Exome sequencing has become increasingly popular as a tool to aid in diagnosis of genetic disease because the exome contributes only
Human_genome
Medical condition
Genome sequencing must be used in the diagnosis of CANVAS rather than exome sequencing or sequence-based multigene panels because the genetic mutation
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome
Cerebellar_ataxia,_neuropathy,_vestibular_areflexia_syndrome
uses blood-derived DNA to conduct whole-genome sequencing (WGS) and whole-exome sequencing (WES) on patients and relevant family members. The UDN metabolomics
Undiagnosed_Diseases_Network
Genus of hominins
(25 August 2013). Characterization of Unique Features of the Denisovan Exome (Masters thesis). California State University. hdl:10211.3/47490. Archived
Homo
Software in bioinformatics
BioSoft SRL 2018.09 C ($69) NA DNASTAR Lasergene Genomics Large genomes, exomes, transcriptomes, metagenomes, ESTs. Also de novo assembly and polishing
De_novo_sequence_assemblers
Medical condition
abnormalities. For example, advanced methods for examining the genome viz., whole-exome sequencing and gene expression profiling, have identified 166 non-silent
Plasma_cell_leukemia
Medical condition
single-gene testing through Sanger sequencing or a multi-gene test through whole exome sequencing or whole genome sequencing. Some features of the disease are
ROSAH_syndrome
Medical condition
S.; Dickerson, J. E. (2014). "The genetic basis of DOORS syndrome: An exome-sequencing study". The Lancet Neurology. 13 (1): 44–58. doi:10.1016/S1474-4422(13)70265-5
DOOR_syndrome
Rare metabolic disorder
childhood-onset dystonias, broader genomic testing may be used, most commonly exome sequencing, but also genome sequencing. The diagnosis is established when
MEPAN_syndrome
Rare genetic condition involving intestinal atresia, eye abnormalities and microcephaly
associated with the syndrome. Methods of genetic detection include whole exome sequencing and panel testing, which involves sequencing a selection of potential
Strømme_syndrome
considered candidate disease genes for the individual in question. Whole exome sequencing is a brute-force approach that involves using modern day sequencing
Disease_gene_identification
Concept in medical research
tumor types. International efforts have performed pan-cancer analysis on exomes and the whole genomes of cancers, the latter including their non-coding
Pan-cancer_analysis
Type of unintended effects of genetic modification techniques
time-consuming and expensive once more target sites are added. Exome sequencing utilizes exome capture to acquire the protein coding regions of the genome
Off-target_genome_editing
Medical condition
is difficult to diagnose, and most individuals have been identified by exome sequencing. NGLY1 deficiency causes a dysfunction in the endoplasmic reticulum-associated
NGLY1_deficiency
Medical condition
the MLL gene can be carried out. Otherwise, it may be diagnosed by whole-exome sequencing or whole genome sequencing. There have also been patients with
Wiedemann–Steiner_syndrome
Defect in the structure of the heart that is present at birth
PMC 5557504. PMID 28302740. Razmara E, Garshasbi M (July 2018). "Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital
Congenital_heart_defect
Medical condition
of serial single-gene testing or multigene panel of genes of interest or exome sequencing. Fryns–Aftimos syndrome is a genetic conditions that presents
Fryns–Aftimos_syndrome
Coenzyme, notable for its synthesis and oxidation role
Karch S, Hinderhofer K, et al. (July 2017). "Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye". American Journal of Medical
Coenzyme_A
Chemical reaction
defects in oxidative phosphorylation, which occurs in the mitochondria. Exome sequencing, has been used to identify a mutation in the gene coding for
Formylation
Protein-coding gene in the species Homo sapiens
Tarpey P, Raine K, Huang D, Ong CK, Stephens P, et al. (January 2011). "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1
PBRM1
American geneticist
sequencing. Shendure's research group at the University of Washington pioneered exome sequencing and its application to Mendelian disorders, a strategy that has
Jay_Shendure
DNA analysis of Arabian populations
disorders of the Arab population with special emphasis on large-scale whole-exome sequencing". Archives of Medical Science. 19 (3): 765–783. doi:10.5114/aoms/145370
Genetic_studies_on_Arabs
Medical condition
Emily G.; Abdelmoity, Ahmed T. G.; Kingsmore, Stephen F. (2013-09-04). "Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of
Smith–Kingsmore_syndrome
Protein-coding gene in mammals
Karch S, Hinderhofer K, et al. (July 2017). "Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye". American Journal of Medical
COASY
Medical college & research institute in Rajasthan, India
and biochemical phenotype and request their samples for high level whole exome sequencing and biobanking. The annual report highlighted work done by the
All India Institute of Medical Sciences, Jodhpur
All_India_Institute_of_Medical_Sciences,_Jodhpur
Rare variants are increasingly being studied, as a consequence of whole exome and whole genome sequencing efforts. While these variants are individually
Rare_variant_(genetics)
Medical condition
Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, et al. (2010). "Exome Sequencing, ANGPTL3Mutations, and Familial Combined Hypolipidemia". New
Hypolipoproteinemia
Study of biochemical processes in an individual cell
"Comparison of whole genome amplification techniques for human single cell exome sequencing". PLOS ONE. 12 (2) e0171566. Bibcode:2017PLoSO..1271566B. doi:10
Single-cell_analysis
Statistical methods for testing associations between rare genetic variants and phenotypes
variant association tests are commonly applied to sequencing data from whole exome sequencing, whole genome sequencing, and targeted resequencing studies.
Rare variant association testing
Rare_variant_association_testing
Mammalian protein found in humans
most commonly known genetic defect predisposing people to obesity. In an exome-wide meta-analysis across three cohorts (UKB, GHS and MCPS), there were
Melanocortin_4_receptor
Medical condition
Magee, Alex C.; Turnpenny, Peter D.; Baralle, Diana (2014-12-01). "Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause
PURA_syndrome
British biochemist
Developmental Disorders project, a translational research study that makes use of exome sequencing to understand undiagnosed developmental disorders. Genome sequencing
Caroline_Wright
Neurological disease
autosomal recessive disease, and its genetic diagnosis can be carried out by exome sequencing. The cause is biallelic loss of function, or in other words the
SLC13A5 citrate transporter disorder
SLC13A5_citrate_transporter_disorder
Medical condition
Boniface C, Goode B, Chapman J, Garg K, et al. (June 2020). "Multiregion exome sequencing of ovarian immature teratomas reveals 2N near-diploid genomes
Immature_teratoma
Japanese physician and medical geneticist
; Niikawa, N.; Nickerson, D. A.; Bamshad, M. J.; Shendure, J. (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature
Norio_Niikawa
Tumor or other abnormal growth of tissue
5% of the total genomic DNA. Within this protein-coding DNA (called the exome), an average cancer of the breast or colon can have about 60 to 70 protein
Neoplasm
DNA sequencing method
specific areas of interest in the genome it is more cost effective than whole exome sequencing and whole genome sequencing which are 171X and 44X more expensive
CAPP-Seq
Medical condition
Loughlin J, Hambleton S, Santibanez-Koref M, Collin M (September 2011). "Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte
GATA2_deficiency
Group of genetic disorders
neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing". Orphanet Journal of Rare Diseases. 19 (1) 205. doi:10.1186/s13023-024-03214-w
KCNH1-related_disorders
Mammalian protein found in humans
PMID 27729268. Novarino G, Fenstermaker AG, Zaki MS, et al. (Jan 2014). "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative
ENTPD1
Japanese company
March 2026. "Baylor Genetics and SRL, Inc. Initiate Clinical Grade of Whole Exome and Genome Sequencing Technology Transfer". GlobeNewswire.com. 29 December
Fujirebio
Medical condition
through Sanger sequencing, or a multi-gene test through panel testing, whole exome sequencing, or whole genome sequencing. These techniques vary in cost, intensity
Adenosine deaminase 2 deficiency
Adenosine_deaminase_2_deficiency
Family of transcription factor protein complexes
Li YY, Chung GT, Lui VW, To KF, Ma BB, Chow C, et al. (January 2017). "Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating
NF-κB
Computational biologist
particular, he has developed an approach to map copy number variation from whole exome sequencing data. He has published approaches to quantify hidden relatedness
Itsik_Pe'er
Protein-coding gene in the species Homo sapiens
variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer". Breast
FAN1
Cytoplasmic biomolecular condensates of proteins and RNA occurring in cells under stress
familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation". Neurobiology of
Stress_granule
Protein-coding gene in the species Homo sapiens
Zhao F, Wu J, Xue A, Su Y, Wang X, Lu X, Zhou Z, Qu J, Zhou X (Apr 2013). "Exome sequencing reveals CCDC111 mutation associated with high myopia". Human
PrimPol
Protein-coding gene in humans
Krummel DA, Auclair D, Bochicchio J, et al. (August 2012). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409):
DDX3X
large number of genes at once from a small sample of DNA through whole-exome sequencing (WES) in which the coding regions of all 22,000 genes are sequenced
Molecular_autopsy
Protein-coding gene in the species Homo sapiens
Nibbeling EA, Duarri A, Verschuuren-Bemelmans CC, et al. (November 2017). "Exome sequencing and network analysis identifies shared mechanisms underlying
PLD3
Medical condition
enzyme. Kabuki syndrome is diagnosed with genetic testing (targeted, whole exome or whole genome sequencing). When genetic testing is not available, Kabuki
Kabuki_syndrome
Protein-coding gene in humans
which was first described in 2019 by Stolerman et al. Standard laboratory exome sequencing can be used to identify the KDM6B gene variant. A 2019 study
KDM6B
Protein-coding gene in the species Homo sapiens
Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V (Apr 2012). "Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis"
PDE4D
Protein-coding gene in the species Homo sapiens
Beinat M, Assouline Z, Lebre AS, Chretien D, et al. (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Human
Mitochondrial ribosomal protein L3
Mitochondrial_ribosomal_protein_L3
American biologist
setting. He chose whole genome sequencing because he expects the more limited exome sequencing will not be a relevant technological approach in the long term
Andrew_Kasarskis
Species of conifer
G.; Davis, John M.; Barbazuk, William B.; Kirst, Matias (2013). "Whole-exome targeted sequencing of the uncharacterized pine genome". The Plant Journal
Pinus_taeda
Protein-coding gene in the species Homo sapiens
functions of Naa15. Two damaging de novo NAA15 mutations were reported by exome sequencing in parent-offspring trios with congenital heart disease. Patient
NAA15
Etiology of psychopathology
was discovered in 2022 as the first gene linked to bipolar disorder. The exomes of around 14,000 individuals with bipolar disorder were analyzed and compared
Causes_of_mental_disorders
Protein-coding gene in the species Homo sapiens
P; Boone, B; Plummer, B; Levy, S; Gogos, J. A.; Karayiorgou, M (2011). "Exome sequencing supports a de novo mutational paradigm for schizophrenia". Nature
FAM3D
new gold standard. Whole-genome sequencing (WGS) is preferred over whole-exome sequencing (WES) because it has the added benefit of being able to analyze
Mitochondrial encephalomyopathy
Mitochondrial_encephalomyopathy
Protein-coding gene in the species Homo sapiens
M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, et al. (December 2010). "Exome sequencing reveals VCP mutations as a cause of familial ALS". Neuron. 68
Valosin-containing_protein
Medical condition
clinical features, but may only be determined by a genetic test. The full exome sequencing test determines the partial deletion, deletion, or mutation to
Lamb–Shaffer_syndrome
Protein-coding gene in humans
Manley PE, Jones RT, Dias-Santagata D, Thorner AR, et al. (February 2014). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature
BRAF_(gene)
Brain tumor of pituitary gland embryonic tissue
Manley PE, Jones RT, Dias-Santagata D, Thorner AR, et al. (February 2014). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature
Craniopharyngioma
Repeating sequences of 2–13 base pairs of DNA
Oshlack A (2020). "Accuracy of short tandem repeats genotyping tools in whole exome sequencing data". F1000Research. 9: 200. doi:10.12688/f1000research.22639
Microsatellite
Pharmaceutical company
exome. Boston: Xconomy. Retrieved 6 July 2019. Vinluan, Frank (23 May 2017). "Novartis' Martin Seidel Joins IFM Therapeutics as V.P. of R&D". exome.
IFM_Therapeutics
In genetics and biochemistry, determining the structure of an unbranched biopolymer
portion of a genome is sequenced. Several platforms were developed to perform exome sequencing (a subset of all DNA across all chromosomes that encode genes)
Sequencing
Protein-coding gene in humans
Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ (July 2012). "Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic
DCTN4
Human genetic disorder
PMID 993918. Opitz JM, Jorde LB (July 27, 2011). "Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle". The New England Journal of Medicine.
Proteus_syndrome
Medical condition
abnormalities. Diagnosis relies on clinical evaluation, genetic testing (whole-exome sequencing), and brain imaging (MRI). The discovery revealed that OTUD5-mediated
LINKED_syndrome
Protein-coding gene in the species Homo sapiens
Park T, Park WY, Choi BY (18 March 2013). "Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing
Actin,_cytoplasmic_2
American biopharmaceutical company
York Times. Retrieved September 22, 2016. Fidler, Ben (July 11, 2013). "Exome: Alnylam Shares Boom on Early Data For Subcutaneous RNA Drug". Xconomy.
Alnylam_Pharmaceuticals
EXOME
EXOME
EXOME
EXOME
Boy/Male
Hindu
Female
Norse
Old Norse name composed of the elements dagr "day" and mær "girl, maid," hence "day-maid."
Girl/Female
Hindu
Ray of light or Sun rays, Silken, Full of light
Boy/Male
Greek American
Security. Helmet maker. Pool in a hollow. Famous Bearer: Homer, the Greek poet who authored...
Girl/Female
Muslim Arabic
Pleasant. Gentle.
Girl/Female
Hebrew American English
Graceful rose.
Girl/Female
Tamil
Chinthana | சீநà¯à®¤à®¾à®¨à®¾Â
Meditation, Intelligent or thoughtful
Boy/Male
Tamil
Continuing, The best, Son
Male
English
English surname transferred to forename use, derived from a place name MURGATROYD means "the clearing belonging to Margaret."
Girl/Female
Bengali, Indian
Most Beautiful
EXOME
EXOME
EXOME
EXOME
EXOME