PCR-free HiSeqX whole genome sequence data on 120 samples with triplet repeat expansions (premutation and full expansions)

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Dataset ID	Description	Technology	Samples
EGAD00001003562	This dataset includes bam files from 120 samples. These samples were sequenced using 2x150bp reads on an Illumina HiSeqX sequencer and aligned using the Isaac aligner. All samples were processed with TruSeq DNA PCR-free sample preparation.	HiSeq X Ten	118

Publications	Citations
Detection of long repeat expansions from PCR-free whole-genome sequence data. Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS, US–Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA. Genome Res 27: 2017 1895-1903	202
Profiling the genome-wide landscape of tandem repeat expansions. Mousavi N, Shleizer-Burko S, Yanicky R, Gymrek M. Nucleic Acids Res 47: 2019 e90	111
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions. Rajan-Babu IS, Peng JJ, Chiu R, IMAGINE Study, CAUSES Study, Li C, Mohajeri A, Dolzhenko E, Eberle MA, Birol I, Friedman JM. Genome Med 13: 2021 126	25
Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment. Fearnley LG, Bennett MF, Bahlo M. Sci Rep 12: 2022 13124	7
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci. Dashnow H, Pedersen BS, Hiatt L, Brown J, Beecroft SJ, Ravenscroft G, LaCroix AJ, Lamont P, Roxburgh RH, Rodrigues MJ, Davis M, Mefford HC, Laing NG, Quinlan AR. Genome Biol 23: 2022 257	21
Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of <i>FMR1</i> Premutation Allele Involvement in Autism Spectrum Disorder. Chubick A, Wang E, Au C, Grody WW, Ophoff RA. Genes (Basel) 14: 2023 1518	0
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci. Fazal S, Danzi MC, Xu I, Kobren SN, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F, Wuchty S, Tekin M, Züchner S, Aguiar-Pulido V. Genome Biol 25: 2024 39	4
A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples. Oketch JW, Wain LV, Hollox EJ. PLoS One 19: 2024 e0300545	3