相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Daniel Taliun et al.
NATURE (2021)
Twelve years of SAMtools and BCFtools
Petr Danecek et al.
GIGASCIENCE (2021)
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
David T. Miller et al.
GENETICS IN MEDICINE (2021)
The genetic structure of the Turkish population reveals high levels of variation and admixture
M. Ece Kars et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes
Pawel Sztromwasser et al.
PEDIATRIC DIABETES (2020)
Insights into human genetic variation and population history from 929 diverse genomes
Anders Bergstrom et al.
SCIENCE (2020)
Korean Genome Project: 1094 Korean personal genomes with clinical information
Sungwon Jeon et al.
SCIENCE ADVANCES (2020)
A structural variation reference for medical and population genetics
Ryan L. Collins et al.
NATURE (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
David Ellinghaus et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
An integrated personal and population-based Egyptian genome reference
Inken Wohlers et al.
NATURE COMMUNICATIONS (2020)
Accurate, scalable cohort variant calls using DeepVariant and GLnexus
Taedong Yun et al.
BIOINFORMATICS (2020)
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
Daniel L. Cameron et al.
NATURE COMMUNICATIONS (2019)
STRUCTURESELECTOR: A web-based software to select and visualize the optimal number of clusters using multiple methods
Yu-Long Li et al.
MOLECULAR ECOLOGY RESOURCES (2018)
Ensembl 2018
Daniel R. Zerbino et al.
NUCLEIC ACIDS RESEARCH (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
The evolutionary history of human populations in Europe
Iosif Lazaridis
CURRENT OPINION IN GENETICS & DEVELOPMENT (2018)
Runs of homozygosity: windows into population history and trait architecture
Francisco C. Ceballos et al.
NATURE REVIEWS GENETICS (2018)
A universal SNP and small-indel variant caller using deep neural networks
Ryan Poplin et al.
NATURE BIOTECHNOLOGY (2018)
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft et al.
NATURE (2018)
Mosdepth: quick coverage calculation for genomes and exomes
Brent S. Pedersen et al.
BIOINFORMATICS (2018)
The impact of structural variation on human gene expression
Colby Chiang et al.
NATURE GENETICS (2017)
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
Petra Dusatkova et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
The program structure does not reliably recover the correct population structure when sampling is uneven: subsampling and new estimators alleviate the problem
Sebastien J. Puechmaille
MOLECULAR ECOLOGY RESOURCES (2016)
Genomics is failing on diversity
Alice B. Popejoy et al.
NATURE (2016)
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Swapan Mallick et al.
NATURE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Jayne Y. Hehir-Kwa et al.
NATURE COMMUNICATIONS (2016)
Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases
Magdalena Koczkowska et al.
CANCER MEDICINE (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
An integrated map of structural variation in 2,504 human genomes
Peter H. Sudmant et al.
NATURE (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
Carlo Sidore et al.
NATURE GENETICS (2015)
Large-scale whole-genome sequencing of the Icelandic population
Daniel F. Gudbjartsson et al.
NATURE GENETICS (2015)
SpeedSeq: ultra-fast personal genome analysis and interpretation
Colby Chiang et al.
NATURE METHODS (2015)
DANN: a deep learning approach for annotating the pathogenicity of genetic variants
Daniel Quang et al.
BIOINFORMATICS (2015)
SAMBLASTER: fast duplicate marking and structural variant read extraction
Gregory G. Faust et al.
BIOINFORMATICS (2014)
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations
W. Szczecinska et al.
BRITISH JOURNAL OF DERMATOLOGY (2014)
The Genome of the Netherlands: design, and project goals
Dorret I. Boomsma et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Laurent C. Francioli et al.
NATURE GENETICS (2014)
Genomic Patterns of Homozygosity in Worldwide Human Populations
Trevor J. Pemberton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Differential confounding of rare and common variants in spatially structured populations
Iain Mathieson et al.
NATURE GENETICS (2012)
APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
Monika B. Hartig et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Demographic history and rare allele sharing among human populations
Simon Gravel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Ruffus: a lightweight Python library for computational pipelines
Leo Goodstadt
BIOINFORMATICS (2010)
Screening for Founder Mutations in BRCA1 and BRCA2 in Unselected Jewish Women
Kelly A. Metcalfe et al.
JOURNAL OF CLINICAL ONCOLOGY (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
The HapMap and Genome-Wide Association Studies in Diagnosis and Therapy
Teri A. Manolio et al.
ANNUAL REVIEW OF MEDICINE (2009)
Fast model-based estimation of ancestry in unrelated individuals
David H. Alexander et al.
GENOME RESEARCH (2009)
Human genetic variation and its contribution to complex traits
Kelly A. Frazer et al.
NATURE REVIEWS GENETICS (2009)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
M Witsch-Raumgartner et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer
R Moslehi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)