High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Real-Time DNA Sequencing from Single Polymerase Molecules

John Eid, Adrian Fehr, Jeremy Gray et al. · Science · 2008 · 3.8K citations

Life Sciences, Molecular Biology, Dna Replication +12

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger, Paul Peluso, William J. Rowell et al. · Nature Biotechnology · 2019 · 1.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

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

Life Sciences, Bioinformatics, Genetics +14

Continuous base identification for single-molecule nanopore DNA sequencing

James Clarke, Hai‐Chen Wu, Lakmal Jayasinghe et al. · Nature Nanotechnology · 2009 · 1.8K citations · Full text

Life Sciences, Biotechnology, Molecular Biology +12