Analysis of clinically relevant variants from ancestrally diverse Asian genomes

[1]  L. Gong,et al.  The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin‐Associated Musculoskeletal Symptoms , 2022, Clinical pharmacology and therapeutics.

[2]  Sri V. V. Deevi,et al.  Rare variant contribution to human disease in 281,104 UK Biobank exomes , 2021, Nature.

[3]  A. Popejoy Too many scientists still say Caucasian , 2021, Nature.

[4]  N. Leach,et al.  Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) , 2021, Genetics in Medicine.

[5]  M. Whirl‐Carrillo,et al.  An Evidence‐Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine , 2021, Clinical pharmacology and therapeutics.

[6]  R. Dahlstrom,et al.  Challenges and opportunities , 2021, Foundations of a Sustainable Economy.

[7]  Chaolong Wang,et al.  Genetic Admixture in the Culturally Unique Peranakan Chinese Population in Southeast Asia , 2021, Molecular biology and evolution.

[8]  Precision medicine needs an equity agenda , 2021, Nature Medicine.

[9]  Danny S. Park,et al.  Toward a fine-scale population health monitoring system , 2021, Cell.

[10]  Weedon Mn,et al.  Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation , 2021, BMJ.

[11]  P. Tam,et al.  Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population , 2021, PLoS genetics.

[12]  N. Powe,et al.  Race and Genetic Ancestry in Medicine - A Time for Reckoning with Racism. , 2021, The New England journal of medicine.

[13]  R. Mägi,et al.  The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects , 2020, bioRxiv.

[14]  D. Baralle,et al.  ‘Next Generation Sequencing’ as a diagnostic tool in paediatrics , 2020, Archives of Disease in Childhood.

[15]  Alexander E. Lopez,et al.  Exome sequencing and characterization of 49,960 individuals in the UK Biobank , 2020, Nature.

[16]  Brent S. Pedersen,et al.  Samplot: a platform for structural variant visual validation and automated filtering , 2020, Genome Biology.

[17]  Howard Y. Chang,et al.  The road ahead in genetics and genomics , 2020, Nature Reviews Genetics.

[18]  Hwei-Jen Lee,et al.  Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen , 2020, Kidney international reports.

[19]  A. Slonim,et al.  Population genetic screening efficiently identifies carriers of autosomal dominant diseases , 2020, Nature Medicine.

[20]  N. Laing,et al.  Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) , 2020, European Journal of Human Genetics.

[21]  Laney K. Jones,et al.  Clinical outcomes of a genomic screening program for actionable genetic conditions , 2020, Genetics in Medicine.

[22]  The eMERGE Clinical Annotation Working Group Frequency of genomic secondary findings among 21,915 eMERGE network participants , 2020 .

[23]  Magalie S Leduc,et al.  Frequency of genomic incidental findings among 21,915 eMERGE network participants , 2020, Genetics in Medicine.

[24]  Xiao Chen,et al.  Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data , 2020, bioRxiv.

[25]  D. Fatkin,et al.  Variants of Uncertain Significance and “Missing Pathogenicity” , 2020, Journal of the American Heart Association.

[26]  Yi-Chung Lee,et al.  NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population , 2019, Neurology.

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

[28]  Brent S. Pedersen,et al.  Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches , 2019, bioRxiv.

[29]  Hannes P. Eggertsson,et al.  GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs , 2019, Nature Communications.

[30]  Katherine R. Smith,et al.  PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels , 2019, Nature Genetics.

[31]  Courtney E. French,et al.  Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data , 2019, Genetics in Medicine.

[32]  Cecelia P. Tamburro,et al.  Opportunities, resources, and techniques for implementing genomics in clinical care , 2019, The Lancet.

[33]  Zhiyu Peng,et al.  AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants , 2019, bioRxiv.

[34]  Lorenzo L. Pesce,et al.  Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants , 2019, bioRxiv.

[35]  E. Zeggini,et al.  Genomics of disease risk in globally diverse populations , 2019, Nature Reviews Genetics.

[36]  Brent S. Pedersen,et al.  Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls , 2019, GigaScience.

[37]  David G. Knowles,et al.  Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.

[38]  Jeffrey Braithwaite,et al.  Integrating Genomics into Healthcare: A Global Responsibility. , 2019, American journal of human genetics.

[39]  R. Mägi,et al.  Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records , 2018, European Journal of Human Genetics.

[40]  K. Goddard,et al.  The evolving landscape of expanded carrier screening: challenges and opportunities , 2018, Genetics in Medicine.

[41]  J. Mi,et al.  Secondary findings in 421 whole exome-sequenced Chinese children , 2018, Human Genomics.

[42]  C. K. Lim,et al.  Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore , 2018, Cell.

[43]  S. Batzoglou,et al.  Predicting the clinical impact of human mutation with deep neural networks , 2018, Nature Genetics.

[44]  Cristina Has,et al.  Faculty of 1000 evaluation for 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. , 2018 .

[45]  B. Berger,et al.  Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes , 2018, Nature Communications.

[46]  D. O’Regan,et al.  CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation , 2018, Genetics in Medicine.

[47]  Chunlei Liu,et al.  ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..

[48]  Mauricio O. Carneiro,et al.  Scaling accurate genetic variant discovery to tens of thousands of samples , 2017, bioRxiv.

[49]  James T. Robinson,et al.  Variant Review with the Integrative Genomics Viewer. , 2017, Cancer research.

[50]  Risha Govind,et al.  CardioClassifier – demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation , 2017, bioRxiv.

[51]  R. Yamada,et al.  HLA‐HD: An accurate HLA typing algorithm for next‐generation sequencing data , 2017, Human mutation.

[52]  P. Stenson,et al.  The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies , 2017, Human Genetics.

[53]  L. Goh,et al.  Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation , 2017, PloS one.

[54]  Trevor Hastie,et al.  REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. , 2016, American journal of human genetics.

[55]  Ying Cheng,et al.  Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution , 2016, Scientific Reports.

[56]  Xiaoyu Chen,et al.  Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications , 2016, Bioinform..

[57]  F. Cunningham,et al.  The Ensembl Variant Effect Predictor , 2016, bioRxiv.

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

[59]  Heidi L Rehm,et al.  ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[60]  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.

[61]  K. Ozono,et al.  Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. , 2014, Gene.

[62]  Jian-Wen Han,et al.  Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris. , 2013, The Journal of investigative dermatology.

[63]  Yongshui Fu,et al.  Studies on CD36 deficiency in South China: Two cases demonstrating the clinical impact of anti-CD36 antibodies , 2013, Thrombosis and Haemostasis.

[64]  C. Bustamante,et al.  RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference. , 2013, American journal of human genetics.

[65]  G. Urso,et al.  Asian Immigration to the European Union, United States and Canada: An Initial Comparison , 2013 .

[66]  Kenneth Lange,et al.  Enhancements to the ADMIXTURE algorithm for individual ancestry estimation , 2011, BMC Bioinformatics.

[67]  Josyf Mychaleckyj,et al.  Robust relationship inference in genome-wide association studies , 2010, Bioinform..

[68]  K. Pindolia,et al.  Analysis of mutations causing biotinidase deficiency a , 2010, Human mutation.

[69]  Munir Pirmohamed,et al.  Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups. , 2010, Blood.

[70]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[71]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[72]  J. Sng,et al.  BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer , 2007, Breast Cancer Research and Treatment.

[73]  Mustafa Tekin,et al.  GJB2 mutations and degree of hearing loss: a multicenter study. , 2005, American journal of human genetics.

[74]  H. Ishiguro,et al.  Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis , 2004, Journal of Medical Genetics.

[75]  W. Hwu,et al.  Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. , 2003, Molecular genetics and metabolism.

[76]  J. Sng,et al.  BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer , 2003, Journal of medical genetics.

[77]  H. Okada,et al.  CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. , 2003, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[78]  J. Olynyk,et al.  A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. , 2002, Gastroenterology.

[79]  Y Hu,et al.  Global Responsibility , 2020, The International Encyclopedia of Higher Education Systems and Institutions.

[80]  Yongshui Fu,et al.  Studies on CD 36 deficiency in South China : Two cases demonstrating the clinical impact of anti-CD 36 antibodies , 2018 .

[81]  P. Majumder,et al.  Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. , 2018, Journal of neuromuscular diseases.