Nature Methods · 2025 · 12 citations · 25 references
Life SciencesBioinformaticsGeneticsGenomicsHuman GeneticsPopulation GeneticsGenome-wide Association StudiesVariant AnalysisVariant CallingVariant ClassificationVariant DetectionVariant InterpretationGenetic Risk VariantsLong-read SequencingLong-read Variant DetectionVariant BenchmarkingVariant Calling BenchmarkingVariant Calling From Long ReadsVariant Detection From Long Reads
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An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text
A universal SNP and small-indel variant caller using deep neural networks
Ryan Poplin, Pi-Chuan Chang, David H. Alexander et al. · Nature Biotechnology · 2018 · 1.9K citations
A high-resolution recombination map of the human genome
Augustine Kong, Daníel F. Guðbjartsson, Jesús Sainz et al. · Nature Genetics · 2002 · 1.8K citations
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Jared C. Roach, Gustavo Glusman, Arian F. A. Smit et al. · Science · 2010 · 1.1K citations · Full text
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Peter Ebert, Peter A. Audano, Qihui Zhu et al. · Science · 2021 · 804 citations · Full text