Concepedia

Genome-wide detection of tandem DNA repeats that are expanded in autism

Brett Trost, Worrawat Engchuan, Charlotte Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A. Mojarad, Yue Yin, Alona Dov,

Nature · 2020 · 260 citations · 62 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersGenomicsMedical GeneticsAutism Spectrum Disorder GeneticsCopy Number VariantsDna SequencingGenome SequencingIntellectual Disability GeneticsRepeat Sequence AnalysisAutism Spectrum Disorder Copy Number VariantsRepeat Expansion AnalysisRepeat Expansion DisordersSimple Sequence RepeatsTandem Repeat Detection

References

62

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +13

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A density-based algorithm for discovering clusters in large spatial Databases with Noise

Martin Ester, Hans‐Peter Kriegel, Jörg Sander et al. · 1996 · 19.1K citations

Computing, Computer Science, Geoinformatics +14

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +17