Custom script searching for unique capture probes that are closest to the target within a specified distance. (SH 13 kb
Supplementary Methods - Additional details on methods presented succinctly in main text. (DOCX 53 kb
Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb
Supplementary file for "A Next Generation Sequencing-based Protocol for Screening of Variants of Con...
SureSelect capture probe design and information on the performance of the different probe combinatio...
Custom script for estimating the number of reads spanning a tandem repeat together with its 20ânt-...
Supplementary script called by the countTargetSpanning.sh script (Additional file 5). (PY 2 kb
Custom script processing the output of the TSSV tool and estimating the genotype of a tandem repeat....
Genotypes obtained from the sequencing data of the targeted tandem repeats in three families with X-...
Custom script filtering the reads that were mapped within a specified distance from the targeted reg...
Output data from the linkage analysis in the L084 family with X-linked intellectual disability. (LOG...
Tables S1–S2, supplemental Figures S1–S3, sample tables of the Additional files 2, 9 and 10. (PDF 81...
Output data from the linkage analysis in the L061 family with X-linked intellectual disability. (LOG...
Output data from the linkage analysis in the L020 family with X-linked intellectual disability. (LOG...
BACKGROUND: The etiology of more than half of all patients with X-linked intellectual disability rem...
Depth of unique coverage according to the size of the target regions (x-axis). Target regions adjace...
Supplementary Methods - Additional details on methods presented succinctly in main text. (DOCX 53 kb
Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb
Supplementary file for "A Next Generation Sequencing-based Protocol for Screening of Variants of Con...
SureSelect capture probe design and information on the performance of the different probe combinatio...
Custom script for estimating the number of reads spanning a tandem repeat together with its 20ânt-...
Supplementary script called by the countTargetSpanning.sh script (Additional file 5). (PY 2 kb
Custom script processing the output of the TSSV tool and estimating the genotype of a tandem repeat....
Genotypes obtained from the sequencing data of the targeted tandem repeats in three families with X-...
Custom script filtering the reads that were mapped within a specified distance from the targeted reg...
Output data from the linkage analysis in the L084 family with X-linked intellectual disability. (LOG...
Tables S1–S2, supplemental Figures S1–S3, sample tables of the Additional files 2, 9 and 10. (PDF 81...
Output data from the linkage analysis in the L061 family with X-linked intellectual disability. (LOG...
Output data from the linkage analysis in the L020 family with X-linked intellectual disability. (LOG...
BACKGROUND: The etiology of more than half of all patients with X-linked intellectual disability rem...
Depth of unique coverage according to the size of the target regions (x-axis). Target regions adjace...
Supplementary Methods - Additional details on methods presented succinctly in main text. (DOCX 53 kb
Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb
Supplementary file for "A Next Generation Sequencing-based Protocol for Screening of Variants of Con...
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