Journal of Molecular Diagnostics · 2022 · 11 citations · 40 references
Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsMolecular DiagnosticsClinical GenomicsDna SequencingGenetic DisordersGenome RearrangementGenome SequencingStructural Variant AnalysisNext-generation Sequencing-based DiagnosisStructural Chromosomal RearrangementsStructural Chromosome RearrangementsStructural Rearrangement DetectionTargeted Capture SequencingTargeted Gene SequencingTargeted Sequencing
40
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Minimap2: pairwise alignment for nucleotide sequences
Heng Li · Bioinformatics · 2018 · 16.8K citations · Full text
Marina Noris, Jessica Caprioli, Elena Bresin et al. · Clinical Journal of the American Society of Nephrology · 2010 · 1K citations · Full text
Genome-wide association study identifies susceptibility loci for IgA nephropathy
Ali G. Gharavi, Krzysztof Kiryluk, Murim Choi et al. · Nature Genetics · 2011 · 624 citations · Full text
Life Sciences, Genetics, Nephrology +14