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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically
Methodology for Y Chromosome Capture: A complete genome sequence of Y chromosome using flow cytometry, laser microdissection and magnetic streptavidin-beads
This study is a comparison of the efficiency of three technologies used for Y chromosome capture and
the next-generation sequencing (NGS) technologies applied for determining its whole sequence. Our
main findings disclose that streptavidin–biotin magnetic particle-based capture methodology offers
better and a deeper sequence coverage for Y chromosome capture, compared to chromosome sorting
and microdissection procedures. Moreover, this methodology is less time consuming and the most
selective for capturing only Y chromosomal material, in contrast with other methodologies that result
in considerable background material from other, non-targeted chromosomes. NGS results compared
between two platforms, NextSeq 500 and SOLID 5500xl, produce the same coverage results. This is the
first study to explore a methodological comparison of Y chromosome capture and genetic analysis. Our
results indicate an improved strategy for Y chromosome research with applications in several scientific
fields where this chromosome plays an important role, such as forensics, medical sciences, molecular
anthropology and cancer sciences.Spanish Alfonso Martin Escudero Foundation for the financial support to one of the
authors of the present work (MJ Alvarez –Cubero)
Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015
The XXIIIrd World Congress of Psychiatric Genetics meeting, sponsored by the International Society of Psychiatric Genetics, was held in Toronto, ON, Canada, on 16-20 October 2015. Approximately 700 participants attended to discuss the latest state-of-the-art findings in this rapidly advancing and evolving field. The following report was written by trainee travel awardees. Each was assigned one session as a rapporteur. This manuscript represents the highlights and topics that were covered in the plenary sessions, symposia, and oral sessions during the conference, and contains major notable and new findings. © 2016 Wolters Kluwer Health, Inc