Cargando…
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline
Autism spectrum disorders (ASDs) are a group of developmental disabilities that affect social interaction and communication and are characterized by repetitive behaviors. There is now a large body of evidence that suggests a complex role of genetics in ASDs, in which many different loci are involved...
Autores principales: | Jiménez-Barrón, Laura T., O'Rawe, Jason A., Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850892/ https://www.ncbi.nlm.nih.gov/pubmed/27148569 http://dx.doi.org/10.1101/mcs.a000422 |
Ejemplares similares
-
Reducing INDEL calling errors in whole genome and exome sequencing data
por: Fang, Han, et al.
Publicado: (2014) -
Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly
por: Narzisi, Giuseppe, et al.
Publicado: (2014) -
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
por: O'Rawe, Jason, et al.
Publicado: (2013) -
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
por: O’Rawe, Jason A., et al.
Publicado: (2013) -
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
por: Fang, Han, et al.
Publicado: (2017)