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Additional file 8: Table S6. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Year: 2017

Type: dataset

Abstract: Raw data for SNVs detected across all patients by Mendelian Inheritance Pattern filtering â all SNVs detected per trio, organized as one trio per sheet, using the Mendelian inheritance filtering. Sheet 1 gives the legend. All SNVs are annotated, including CADD and RVIS scores. (XLSX 57 kb)

Source: Figshare

DOI: 10.6084/m9.figshare.c.3787337_d9

Authors: Zahir, Farah, Mwenifumbo, Jill, Chun, Hye-Jung, Lim, Emilia, Karnebeek, Clara Van, Couse, Madeline, Mungall, Karen, Lee, Leora, Makela, Nancy, Linlea Armstrong, Boerkoel, Cornelius, Langlois, Sylvie, McGillivray, Barbara, Jones, Steven, Friedman, Jan, Marra, Marco

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4394076852

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