Mark Douglas Yandell


Ontology type: schema:Person     


Person Info

NAME

Mark Douglas

SURNAME

Yandell

Publications in SciGraph latest 50 shown

  • 2022-07-22 A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia in NPJ GENOMIC MEDICINE
  • 2021-10-21 A Poisson binomial-based statistical testing framework for comorbidity discovery across electronic health record datasets in NATURE COMPUTATIONAL SCIENCE
  • 2021-10-14 Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases in GENOME MEDICINE
  • 2019-10-17 De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes in NATURE COMMUNICATIONS
  • 2018-09-17 Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-04-19 Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2018-02-20 The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool in BMC BIOINFORMATICS
  • 2018-01-22 The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution in NATURE GENETICS
  • 2017-10-09 Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands in NATURE GENETICS
  • 2017-08-14 Settling the score: variant prioritization and Mendelian disease in NATURE REVIEWS GENETICS
  • 2016-08-25 VARPRISM: incorporating variant prioritization in tests of de novo mutation association in GENOME MEDICINE
  • 2016-05-26 Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling in GENOME BIOLOGY
  • 2016-03-07 The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons in NATURE GENETICS
  • 2015-12-09 Age-related mutations and chronic myelomonocytic leukemia in LEUKEMIA
  • 2015-05-14 Muscle stem cells contribute to myofibres in sedentary adult mice in NATURE COMMUNICATIONS
  • 2014-12-16 Transposable element islands facilitate adaptation to novel environments in an invasive species in NATURE COMMUNICATIONS
  • 2014-10-21 Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma in TRANSLATIONAL PSYCHIATRY
  • 2014-05-18 A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data in NATURE BIOTECHNOLOGY
  • 2014-04-27 An improved genome release (version Mt4.0) for the model legume Medicago truncatula in BMC GENOMICS
  • 2014-03-25 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge in GENOME BIOLOGY
  • 2014-03-04 Decoding the massive genome of loblolly pine using haploid DNA and novel assembly strategies in GENOME BIOLOGY
  • 2013-05-10 Genome of the long-living sacred lotus (Nelumbo nucifera Gaertn.) in GENOME BIOLOGY
  • 2013-04-17 The African coelacanth genome provides insights into tetrapod evolution in NATURE
  • 2013-02-24 Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution in NATURE GENETICS
  • 2012-06-28 Elucidation of the molecular envenomation strategy of the cone snail Conus geographus through transcriptome sequencing of its venom duct in BMC GENOMICS
  • 2012-04-18 A beginner's guide to eukaryotic genome annotation in NATURE REVIEWS GENETICS
  • 2011-12-22 MAKER2: an annotation pipeline and genome-database management tool for second-generation genome projects in BMC BIOINFORMATICS
  • 2011-09-19 Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency in GENOME BIOLOGY
  • 2011-09-19 Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency in GENOME BIOLOGY
  • 2011-01-25 Characterization of the Conus bullatus genome and its venom-duct transcriptome in BMC GENOMICS
  • 2010-08-26 A standard variation file format for human genome sequences in GENOME BIOLOGY
  • 2010-07-13 Genome sequence of the necrotrophic plant pathogen Pythium ultimum reveals original pathogenicity mechanisms and effector repertoire in GENOME BIOLOGY
  • 2010-07-07 The Pinus taeda genome is characterized by diverse and highly diverged repetitive sequences in BMC GENOMICS
  • 2009-02-23 Quantitative measures for the management and comparison of annotated genomes in BMC BIOINFORMATICS
  • 2005-04-29 The Sequence Ontology: a tool for the unification of genome annotations in GENOME BIOLOGY
  • 2002-08 Genomics and natural language processing in NATURE REVIEWS GENETICS
  • 1999-12 A general approach to single-nucleotide polymorphism discovery in NATURE GENETICS
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