Michael C. Schatz

A high-resolution human pangenome structural variant resource for improved disease association

Jiadong Lin, Jonas A. Gustafson, Julie Wertz, Yang Sui et autres

Long-read sequencing (LRS) and diploid genome assembly have enabled nearly complete structural variant (SV) discovery. Using 293 nearly complete genomes, we characterize the full spectrum of genetic variation and show that while 99% of the variants between any two genomes are single …

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Behavioral Assessment Reliability in Clinical Phenotyping and Biomarker Research for Autism

Enrique Perez-Benavides, Jueqi Wang, Z. CHEN, Stefen Beeler-Duden et autres

Autism Spectrum Disorder standardized behavioral assessments provide quantitative measures of symptoms, yet their reliability and consistency have not been systematically evaluated. We present the first large-scale comparative analysis of four widely used assessments. We analyzed behavioral assessments across three autism cohorts using …

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Additional file 19: of Hybrid assembly with long and short reads improves discovery of gene family expansions

Jason Miller, Peng Zhou, Joann Mudge, James P Gurtowski et autres

Primer sequences used for CRP amplification. (PDF 39 kb)

Additional file 19: of Hybrid assembly with long and short reads improves discovery of gene family expansions

Jason Miller, Peng Zhou, Joann Mudge, James P Gurtowski et autres

Primer sequences used for CRP amplification. (PDF 39 kb)

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, Michael Ronemus et autres

Abstract Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2, 500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected …