Cargando…

Secondary findings and carrier test frequencies in a large multiethnic sample

BACKGROUND: Besides its growing importance in clinical diagnostics and understanding the genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich source of additional information of potential clinical utility for physicians, patients and their families. We analyzed the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gambin, Tomasz, Jhangiani, Shalini N., Below, Jennifer E., Campbell, Ian M., Wiszniewski, Wojciech, Muzny, Donna M., Staples, Jeffrey, Morrison, Alanna C., Bainbridge, Matthew N., Penney, Samantha, McGuire, Amy L., Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507324/ https://www.ncbi.nlm.nih.gov/pubmed/26195989 http://dx.doi.org/10.1186/s13073-015-0171-1

Ejemplares similares

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy
por: Collison, Frederick T., et al.
Publicado: (2015)

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
por: Oswiecimska, Joanna, et al.
Publicado: (2019)

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
por: Lupski, James R, et al.
Publicado: (2013)

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
por: Chen, Shan, et al.
Publicado: (2020)

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients
por: Posey, Jennifer E., et al.
Publicado: (2015)

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
por: Carvalho, Claudia M B, et al.
Publicado: (2014)

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
por: Wangler, Michael F., et al.
Publicado: (2014)

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
por: Gambin, Tomasz, et al.
Publicado: (2017)

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death
por: Boone, Philip M., et al.
Publicado: (2015)

Loss-of-function variants influence the human serum metabolome
por: Yu, Bing, et al.
Publicado: (2016)

Lessons learned from additional research analyses of unsolved clinical exome cases
por: Eldomery, Mohammad K., et al.
Publicado: (2017)

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2
por: Sajan, Samin A., et al.
Publicado: (2016)

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
por: Charng, Wu-Lin, et al.
Publicado: (2016)

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation
por: Karaca, Ender, et al.
Publicado: (2018)

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
por: Sorte, Hanne S., et al.
Publicado: (2016)

Prevalence of spinocerebellar ataxia 36 in a US population
por: Valera, Juliana M., et al.
Publicado: (2017)

Whole genome sequence analysis of serum amino acid levels
por: Yu, Bing, et al.
Publicado: (2016)

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
por: Eldomery, Mohammad K., et al.
Publicado: (2016)

Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study
por: Morrison, Alanna C., et al.
Publicado: (2014)

Evaluation of a Multiethnic Polygenic Risk Score Model for Prostate Cancer
por: Plym, Anna, et al.
Publicado: (2021)

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations
por: Wang, Min, et al.
Publicado: (2015)

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
por: Gambin, Tomasz, et al.
Publicado: (2020)

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
por: Robak, Laurie A., et al.
Publicado: (2020)

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome
por: Polfus, Linda M., et al.
Publicado: (2016)

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns
por: Li, Alexander H., et al.
Publicado: (2017)

Dietary Patterns and Risk for Diabetes: The Multiethnic Cohort
por: Erber, Eva, et al.
Publicado: (2010)

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation
por: Patel, Ronak M., et al.
Publicado: (2017)

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
por: Bainbridge, Matthew N, et al.
Publicado: (2013)

Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
por: Morrison, Alanna C., et al.
Publicado: (2013)

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening
por: Behar, Doron M., et al.
Publicado: (2017)

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
por: Loviglio, Maria Nicla, et al.
Publicado: (2016)

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
por: Carvalho, Claudia M. B., et al.
Publicado: (2019)

Diabetes quality of life perception in a multiethnic population
por: Goh, S. G. K., et al.
Publicado: (2014)

The association of diabetes with colorectal cancer risk: the Multiethnic Cohort
por: He, J, et al.
Publicado: (2010)

Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)
por: Salfati, Elias, et al.
Publicado: (2015)

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
por: Calame, Daniel G., et al.
Publicado: (2021)

Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
por: Alotaibi, Rasha N., et al.
Publicado: (2022)

Diabetes Incidence Based on Linkages With Health Plans: The Multiethnic Cohort
por: Maskarinec, Gertraud, et al.
Publicado: (2009)

Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study
por: Loomis, Stephanie J., et al.
Publicado: (2019)

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
por: Du, Haowei, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_g8tg367hhbnq8t96gjeab4gf6u