Understanding genetic epidemiology and population disparities of inherited blood cancer syndromes from integrative analysis of population genomics datasets

[1]  K. Elenitoba-Johnson,et al.  Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation , 2020, Frontiers in Genetics.

[2]  Markus S. Schröder,et al.  The GenomeAsia 100K Project enables genetic discoveries across Asia , 2019, Nature.

[3]  Ryan L. Collins,et al.  Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.

[4]  Alexandros Kouris,et al.  VarSome: the human genomic variant search engine , 2018, bioRxiv.

[5]  E. Xoplaki,et al.  East Asian warm season temperature variations over the past two millennia , 2018, Scientific reports.

[6]  Shuangge Ma,et al.  Racial Differences in Four Leukemia Subtypes: Comprehensive Descriptive Epidemiology , 2018, Scientific Reports.

[7]  I. Martín-Guerrero,et al.  Genetic susceptibility in childhood acute lymphoblastic leukemia , 2017, Medical Oncology.

[8]  R. Ali,et al.  Childhood cancer incidence by ethnic group in England, 2001–2007: a descriptive epidemiological study , 2017, BMC Cancer.

[9]  C. Dinardo,et al.  Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes , 2017, Current Genetic Medicine Reports.

[10]  Jaume Bertranpetit,et al.  Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation , 2016, Nature Genetics.

[11]  Yun S. Song,et al.  The Simons Genome Diversity Project: 300 genomes from 142 diverse populations , 2016, Nature.

[12]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[13]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[14]  S. Savage,et al.  Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population , 2015, Clinical genetics.

[15]  M. Relling,et al.  Inherited genetic variation in childhood acute lymphoblastic leukemia. , 2015, Blood.

[16]  Bale,et al.  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 , 2015, Genetics in Medicine.

[17]  Mark I. McCarthy,et al.  The South Asian Genome , 2014, PloS one.

[18]  Peng Chen,et al.  Insights into the Genetic Structure and Diversity of 38 South Asian Indians from Deep Whole-Genome Sequencing , 2014, PLoS genetics.

[19]  K. Offit,et al.  A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome , 2013, PLoS genetics.

[20]  N. Ameziane,et al.  Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges , 2012, PloS one.

[21]  Kai Wang,et al.  wANNOVAR: annotating genetic variants for personal genomes via the web , 2012, Journal of Medical Genetics.

[22]  Daniel Sinnett,et al.  Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia , 2011, Haematologica.

[23]  C. Rotimi,et al.  Genetic Variants Associated with Complex Human Diseases Show Wide Variation across Multiple Populations , 2009, Public Health Genomics.

[24]  Perry L. Miller,et al.  ALFRED: an allele frequency database for diverse populations and DNA polymorphisms - an update , 2001, Nucleic Acids Res..