Hiatt Laurel, Weisburd Ben, Dolzhenko Egor, Rubinetti Vincent, Avvaru Akshay K, VanNoy Grace E, Kurtas Nehir Edibe, Rehm Heidi L, Quinlan Aaron R, Dashnow Harriet
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Genome Med. 2025 Mar 26;17(1):29. doi: 10.1186/s13073-025-01454-4.
Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1-6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp motifs. TR variants contribute to several dozen monogenic diseases but remain understudied and enigmatic. It remains comparatively challenging to interpret the clinical significance of TR variants, particularly relative to single nucleotide variants. We present STRchive ( http://strchive.org/ ), a dynamic resource consolidating information on TR disease loci from the research literature, up-to-date clinical resources, and large-scale genomic databases, streamlining TR variant interpretation at disease-associated loci.
人类基因组中约8%由称为串联重复序列（TRs）的重复元件组成：1 - 6个碱基基序的短串联重复序列（STRs）和7个及以上碱基基序的可变数目串联重复序列（VNTRs）。TR变异与几十种单基因疾病有关，但仍未得到充分研究且颇具神秘性。解释TR变异的临床意义相对更具挑战性，尤其是相对于单核苷酸变异而言。我们展示了STRchive（http://strchive.org/），这是一个动态资源库，整合了来自研究文献、最新临床资源和大规模基因组数据库的TR疾病位点信息，简化了疾病相关位点的TR变异解读。
