|
| 35190689 | Using deep learning to annotate the protein universe. | Nat Biotechnol | 2022 |
| 34987224 | RNA profiles reveal signatures of future health and disease in pregnancy. | Nature | 2022 |
| 34283192 | Challenges of Accuracy in Germline Clinical Sequencing Data. | JAMA | 2021 |
| 31406327 | Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. | Nat Biotechnol | 2019 |
| 30617335 | A guide to deep learning in healthcare. | Nat Med | 2019 |
| 30916319 | GenomeWarp: an alignment-based variant coordinate transformation. | | 2019 |
| 30864325 | CrowdVariant: a crowdsourcing approach to classify copy number variants. | Pac Symp Biocomput | 2019 |
| 29360107 | Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. | Sci Data | 2018 |
| 30247488 | A universal SNP and small-indel variant caller using deep neural networks. | Nature Biotechnology | 2018 |
| 29648622 | Deep learning of genomic variation and regulatory network data. | Hum Mol Genet | 2018 |
| 29279374 | Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. | Proc Natl Acad Sci U S A | 2018 |
| 27876817 | A framework for the detection of de novo mutations in family-based sequencing data. | Eur J Hum Genet | 2017 |
| 28341696 | A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. | Diabetes | 2017 |
| 29257133 | Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. | Sci Data | 2017 |
| 27535533 | Analysis of protein-coding genetic variation in 60,706 humans. | Nature | 2016 |
| 27398621 | The genetic architecture of type 2 diabetes. | Nature | 2016 |
| 25487149 | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. | Nature | 2015 |
| 25086666 | A framework for the interpretation of de novo mutation in human disease. | Nat Genet | 2014 |
| 24463508 | A polygenic burden of rare disruptive mutations in schizophrenia. | Nature | 2014 |
| 24980144 | Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. | Genome Biol | 2014 |
| 24941081 | Loss-of-function mutations in APOC3, triglycerides, and coronary disease. | N Engl J Med | 2014 |
| 23352160 | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. | Neuron | 2013 |
| 25431634 | From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. | Curr Protoc Bioinformatics | 2013 |
| 23593035 | Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. | PLoS Genet | 2013 |
| 23128226 | An integrated map of genetic variation from 1,092 human genomes. | Nature | 2012 |
| 22807667 | Efficiency and power as a function of sequence coverage, SNP array density, and imputation. | PLoS Comput Biol | 2012 |
| 22344438 | A systematic survey of loss-of-function variants in human protein-coding genes. | Science | 2012 |
| 22495311 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | Nature | 2012 |
| 22863213 | Pacific biosciences sequencing technology for genotyping and variation discovery in human data. | BMC Genomics | 2012 |
| 21775993 | Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. | Nat Genet | 2011 |
| 21478889 | A framework for variation discovery and genotyping using next-generation DNA sequencing data. | Nat Genet | 2011 |
| 21212097 | Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. | Hum Mol Genet | 2011 |
| 21244689 | Next-generation sequencing for HLA typing of class I loci. | BMC Genomics | 2011 |
| 21803805 | ContEst: estimating cross-contamination of human samples in next-generation sequencing data. | Bioinformatics | 2011 |
| 21917140 | The functional spectrum of low-frequency coding variation. | Genome Biol | 2011 |
| 21666693 | Variation in genome-wide mutation rates within and between human families. | Nat Genet | 2011 |
| 21653522 | The variant call format and VCFtools. | Bioinformatics | 2011 |
| 20644199 | The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. | Genome Res | 2010 |
| 20942659 | Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. | N Engl J Med | 2010 |
| 20427419 | Low-complexity regions in Plasmodium falciparum: missing links in the evolution of an extreme genome. | Mol Biol Evol | 2010 |
| 20159551 | Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis. | Molecular Cell | 2010 |
| 19602543 | Temporal constraints on the incorporation of regulatory mutants in evolutionary pathways. | Molecular Biology and Evolution | 2009 |
| 19628003 | Introducing simulated cellular architecture to the quantitative analysis of fluorescent microscopy. | Progress in Biophysics and Molecular Biology | 2009 |
| 17556755 | Mutational reversions during adaptive protein evolution. | Molecular Biology and Evolution | 2007 |
| 19404414 | The subtle benefits of being promiscuous: adaptive evolution potentiated by enzyme promiscuity. | | 2007 |
| 16518382 | Is one solution good enough? | Nat Struct Mol Biol | 2006 |
| 16766188 | The RNA degradosome: life in the fast lane of adaptive molecular evolution. | Trends in Biochemical Sciences | 2006 |
| 16806741 | On the abundance, amino acid composition, and evolutionary dynamics of low-complexity regions in proteins. | Gene | 2006 |
| 16905105 | Knowledge-based real-space explorations for low-resolution structure determination. | Structure | 2006 |
| 16601193 | Darwinian evolution can follow only very few mutational paths to fitter proteins. | Science | 2006 |