Cargando…

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or commo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Quinodoz, Mathieu, Peter, Virginie G., Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Sousa, Ana Berta, Coutinho Santos, Luisa, Superti-Furga, Andrea, Rivolta, Carlo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7822856/ https://www.ncbi.nlm.nih.gov/pubmed/33483490 http://dx.doi.org/10.1038/s41467-020-20584-4

Ejemplares similares

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
por: Salmaninejad, Arash, et al.
Publicado: (2020)

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
por: Rehman, Atta Ur, et al.
Publicado: (2021)

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
por: Quinodoz, Mathieu, et al.
Publicado: (2022)

HomozygosityMapper—an interactive approach to homozygosity mapping
por: Seelow, Dominik, et al.
Publicado: (2009)

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature
por: Bastos, Filipa, et al.
Publicado: (2020)

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations
por: Royer-Bertrand, Beryl, et al.
Publicado: (2021)

HomozygosityMapper2012—bridging the gap between homozygosity mapping and deep sequencing
por: Seelow, Dominik, et al.
Publicado: (2012)

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies
por: Saqib, Muhammad Arif Nadeem, et al.
Publicado: (2015)

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4
por: Ur Rehman, Atta, et al.
Publicado: (2019)

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data
por: Huqun*, et al.
Publicado: (2010)

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome
por: Gioia, Silvio Alessandro Di, et al.
Publicado: (2015)

Homozygosity mapping in the Kazakh national dog breed Tazy
por: Perfilyeva, Anastassiya, et al.
Publicado: (2023)

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
por: Lebon, Sébastien, et al.
Publicado: (2021)

Simulation-based homozygosity mapping with the GAW14 COGA dataset on alcoholism
por: Libiger, Ondrej, et al.
Publicado: (2005)

Detecting Identity by Descent and Homozygosity Mapping in Whole-Exome Sequencing Data
por: Zhuang, Zhong, et al.
Publicado: (2012)

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
por: Wakeling, Matthew Neil, et al.
Publicado: (2018)

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
por: Royer-Bertrand, Beryl, et al.
Publicado: (2015)

Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients
por: Hagiwara, Koichi, et al.
Publicado: (2011)

Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis
por: Kurotaki, Naohiro, et al.
Publicado: (2011)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
por: Bocquet, Béatrice, et al.
Publicado: (2013)

KinSNP software for homozygosity mapping of disease genes using SNP microarrays
por: Amir, El-Ad David, et al.
Publicado: (2010)

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
por: Wakeling, Matthew Neil, et al.
Publicado: (2018)

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report
por: Hinrichs, Timo, et al.
Publicado: (2010)

Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data
por: Jiang, Haiyan, et al.
Publicado: (2009)

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
por: Siemiatkowska, Anna M., et al.
Publicado: (2011)

Systems Biomedicine of Primary and Metastatic Colorectal Cancer Reveals Potential Therapeutic Targets
por: Piran, Mehran, et al.
Publicado: (2021)

Proteome-wide small molecule and metabolite interaction mapping
por: Huber, Kilian V. M., et al.
Publicado: (2015)

Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing
por: Voz, Marianne L., et al.
Publicado: (2012)

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
por: Srilekha, Sundaramurthy, et al.
Publicado: (2015)

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family
por: Dalal, Ashwin, et al.
Publicado: (2015)

Homozygosity mapping and sequencing identify two genes that might contribute to pointing behavior in hunting dogs
por: Akkad, Denis A, et al.
Publicado: (2015)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Homozygosity Mapping Reveals Population History and Trait Architecture in Self-Incompatible Pear (Pyrus spp.)
por: Kumar, Satish, et al.
Publicado: (2021)

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant
por: Royer‐Bertrand, Béryl, et al.
Publicado: (2019)

Homozygosity by descent mapping of blood pressure in the Old Order Amish: evidence for sex specific genetic architecture
por: McArdle, Patrick F, et al.
Publicado: (2007)

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing
por: Imai, Atsuko, et al.
Publicado: (2015)

Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia
por: Kornilov, Sergey A., et al.
Publicado: (2019)

Whole-genome homozygosity mapping reveals candidate regions affecting bull fertility in US Holstein cattle
por: Nani, Juan Pablo, et al.
Publicado: (2020)

Homozygosity Mapping on a Single Patient—Identification of Homozygous Regions of Recent Common Ancestry by Using Population Data
por: Zhang, Lu, et al.
Publicado: (2011)

The Auto-Inhibitory Role of the EPAC Hinge Helix as Mapped by NMR
por: Selvaratnam, Rajeevan, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_6570tmc4f8bgfhejlk7vah2bo5