Cargando…

Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits

Some genetic diseases (“digenic traits”) are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example, certain forms of Retinitis Pigmentosa, a type of blindness, occur in the presence of two mutant variants, one each in the ROM1 and RDS genes,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Okazaki, Atsuko, Horpaopan, Sukanya, Zhang, Qingrun, Randesi, Matthew, Ott, Jurg
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391494/ https://www.ncbi.nlm.nih.gov/pubmed/34440333 http://dx.doi.org/10.3390/genes12081160

Ejemplares similares

A multi-threaded approach to genotype pattern mining for detecting digenic disease genes
por: Zhang, Qingrun, et al.
Publicado: (2023)

AprioriGWAS, a New Pattern Mining Strategy for Detecting Genetic Variants Associated with Disease through Interaction Effects
por: Zhang, Qingrun, et al.
Publicado: (2014)

Heterozygosity mapping for human dominant trait variants
por: Imai‐Okazaki, Atsuko, et al.
Publicado: (2019)

Detecting disease-associated genotype patterns
por: Long, Quan, et al.
Publicado: (2009)

Shared genomic segment analysis with equivalence testing
por: Horpaopan, Sukanya, et al.
Publicado: (2020)

An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases
por: Yuan, Yangyang, et al.
Publicado: (2022)

A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis
por: Wanitsuwan, Worrawit, et al.
Publicado: (2021)

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease
por: Kamar, Amina, et al.
Publicado: (2021)

Overview of frequent pattern mining
por: Ott, Jurg, et al.
Publicado: (2022)

Digenic inheritance in medical genetics
por: Schäffer, Alejandro A
Publicado: (2013)

ENAM mutations and digenic inheritance
por: Zhang, Hong, et al.
Publicado: (2019)

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
por: Schubert, Stephanie A., et al.
Publicado: (2020)

HPV genotype distribution according to severity of cervical neoplasia using the digene HPV genotyping LQ test
por: Halfon, Philippe, et al.
Publicado: (2013)

Digenic Inheritance in Cystinuria Mouse Model
por: Espino, Meritxell, et al.
Publicado: (2015)

Exploring digenic inheritance in arrhythmogenic cardiomyopathy
por: König, Eva, et al.
Publicado: (2017)

Understanding mutational effects in digenic diseases
por: Gazzo, Andrea, et al.
Publicado: (2017)

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
por: Ferrari, Luca, et al.
Publicado: (2020)

Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma
por: Poon, Kok-Siong, et al.
Publicado: (2021)

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
por: Najafi, Arash, et al.
Publicado: (2019)

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly
por: Stone, Stephen I, et al.
Publicado: (2020)

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis
por: Steen, Erica A., et al.
Publicado: (2021)

Combining identity by descent and association in genetic case-control studies
por: Zhang, Qingrun, et al.
Publicado: (2008)

Comparison of the Digene HPV Genotyping LQ Test and the PANArray HPV Genotyping Chip for Detection of High-Risk or Probable High-Risk Human Papillomavirus Genotypes
por: Park, Kyung Sun, et al.
Publicado: (2014)

DIDA: A curated and annotated digenic diseases database
por: Gazzo, Andrea M., et al.
Publicado: (2016)

Non-collagen genes role in digenic Alport syndrome
por: Daga, S., et al.
Publicado: (2019)

Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family
por: Riahi, Kourosh, et al.
Publicado: (2021)

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting
por: Petzold, Friederike, et al.
Publicado: (2023)

Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis
por: Yang, Qi, et al.
Publicado: (2021)

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the β-subunit of transducin with digenic disease
por: Gao, Yong-Qing, et al.
Publicado: (2007)

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders
por: Ameratunga, Rohan, et al.
Publicado: (2018)

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
por: Schrauwen, Isabelle, et al.
Publicado: (2018)

Digenic mutations on SCAP and AGXT2 predispose to premature myocardial infarction
por: Gao, Yuanfeng, et al.
Publicado: (2017)

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism
por: Gonçalves, Catarina I, et al.
Publicado: (2017)

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism
por: Aycan, Zehra, et al.
Publicado: (2017)

Assessing the digenic model in rare disorders using population sequencing data
por: Moreno-Ruiz, Nerea, et al.
Publicado: (2022)

Population genetics: past, present, and future
por: Okazaki, Atsuko, et al.
Publicado: (2020)

A 3’ UTR SNP rs885863, a cis-eQTL for the circadian gene VIPR2 and lincRNA 689, is associated with opioid addiction
por: Levran, Orna, et al.
Publicado: (2019)

Performance of the digene LQ, RH and PS HPVs genotyping systems on clinical samples and comparison with HC2 and PCR-based Linear Array
por: Godínez, Jose M, et al.
Publicado: (2011)

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
por: Voskarides, Konstantinos, et al.
Publicado: (2018)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
por: Duerinckx, Sarah, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_9iskua40hqqa0s8o7knd0ls6qk