strive：一个动态资源，详细介绍了串联重复疾病基因座的种群水平和基因座特异性见解。

IF 10.4 1区生物学 Q1 GENETICS & HEREDITY

Genome Medicine Pub Date : 2025-03-26 DOI:10.1186/s13073-025-01454-4

Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K Avvaru, Grace E VanNoy, Nehir Edibe Kurtas, Heidi L Rehm, Aaron R Quinlan, Harriet Dashnow

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引用次数: 0

摘要

大约8%的人类基因组由称为串联重复序列（TRs）的重复元件组成：1-6 bp基序的短串联重复序列（STRs）和7 + bp基序的可变数串联重复序列（VNTRs）。TR变异与几十种单基因疾病有关，但仍未得到充分的研究和研究。解释TR变异的临床意义，特别是相对于单核苷酸变异，仍然具有相对挑战性。我们介绍了STRchive (http://strchive.org/)，这是一个动态资源，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变异解释。

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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.

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.

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来源期刊

Genome Medicine GENETICS & HEREDITY-

CiteScore

20.80

自引率

0.80%

发文量

128

审稿时长

6-12 weeks

期刊介绍： Genome Medicine is an open access journal that publishes outstanding research applying genetics, genomics, and multi-omics to understand, diagnose, and treat disease. Bridging basic science and clinical research, it covers areas such as cancer genomics, immuno-oncology, immunogenomics, infectious disease, microbiome, neurogenomics, systems medicine, clinical genomics, gene therapies, precision medicine, and clinical trials. The journal publishes original research, methods, software, and reviews to serve authors and promote broad interest and importance in the field.