From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

The Sequence Alignment/Map format and SAMtools

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Fast and accurate long-read alignment with Burrows-Wheeler transform.

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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A map of human genome variation from population-scale sequencing.

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dbSNP: the NCBI database of genetic variation

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Integrating common and rare genetic variation in diverse human populations

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An initial map of insertion and deletion (INDEL) variation in the human genome

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On the Interpretation of χ 2 from Contingency Tables, and the Calculation of P

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The mutational constraint spectrum quantified from variation in 141,456 humans

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The nf-core framework for community-curated bioinformatics pipelines

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Next-generation characterization of the Cancer Cell Line Encyclopedia

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The commensal microbiome is associated with anti-PD-1 efficacy in metastatic melanoma patients

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Single-Cell Transcriptomic Analysis of Primary and Metastatic Tumor Ecosystems in Head and Neck Cancer

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Single-cell reconstruction of the early maternal–fetal interface in humans

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

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A living biobank of breast cancer organoids captures disease heterogeneity

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Scaling accurate genetic variant discovery to tens of thousands of samplesPreprint

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Strelka2: fast and accurate calling of germline and somatic variants

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Molecular determinants of response to anti-programmed cell death (PD)-1 and anti-programmed death-ligand 1 (PD-L1) blockade in patients with non-small-cell lung cancer profiled with targeted next-generation sequencing

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Distinct cellular mechanisms underlie anti-CTLA-4 and anti-PD-1 checkpoint blockade

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A single-cell transcriptomic atlas characterizes ageing tissues in the mouse

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A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity

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Pan-cancer whole-genome analyses of metastatic solid tumours

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vcfr : a package to manipulate and visualize variant call format data in R

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Clinical application of whole-exome sequencing across clinical indications

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Evolution of Darwin’s finches and their beaks revealed by genome sequencing

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Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

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Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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Integrated molecular analysis of tumor biopsies on sequential CTLA-4 and PD-1 blockade reveals markers of response and resistance

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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

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An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

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Extensive sequencing of seven human genomes to characterize benchmark reference materials

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Proteogenomic Analysis of Human Colon Cancer Reveals New Therapeutic Opportunities

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In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates

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Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

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Patient-Derived Organoids Predict Chemoradiation Responses of Locally Advanced Rectal Cancer

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A Comprehensive Human Gastric Cancer Organoid Biobank Captures Tumor Subtype Heterogeneity and Enables Therapeutic Screening

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De novo assembly, annotation, and comparative analysis of 26 diverse maize genomes

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Multiscale Analysis of Independent Alzheimer’s Cohorts Finds Disruption of Molecular, Genetic, and Clinical Networks by Human Herpesvirus

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A single dose of neoadjuvant PD-1 blockade predicts clinical outcomes in resectable melanoma

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Variant interpretation using population databases: Lessons from gnomAD

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pixy : Unbiased estimation of nucleotide diversity and divergence in the presence of missing data

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MutationalPatterns: comprehensive genome-wide analysis of mutational processes

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Extensive introgression in a malaria vector species complex revealed by phylogenomics

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Multi-omic machine learning predictor of breast cancer therapy response

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The Genetic Landscape and Clonal Evolution of Breast Cancer Resistance to Palbociclib plus Fulvestrant in the PALOMA-3 Trial

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Loss of epigenetic information as a cause of mammalian aging

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The Translational Landscape of the Human Heart

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Integrative Proteomic Characterization of Human Lung Adenocarcinoma

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Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

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Genomic architecture and introgression shape a butterfly radiation

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Improved reference genome of Aedes aegypti informs arbovirus vector control

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The Sorghum bicolor reference genome: improved assembly, gene annotations, a transcriptome atlas, and signatures of genome organization

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Inflammation-induced IgA+ cells dismantle anti-liver cancer immunity

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MHC proteins confer differential sensitivity to CTLA-4 and PD-1 blockade in untreated metastatic melanoma

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Single-Cell Analysis of Human Pancreas Reveals Transcriptional Signatures of Aging and Somatic Mutation Patterns

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Longitudinal molecular trajectories of diffuse glioma in adults

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ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade

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Big Data Application in Biomedical Research and Health Care: A Literature Review

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EAGER: efficient ancient genome reconstruction

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The prehistoric peopling of Southeast Asia

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Patient-derived organoids from endometrial disease capture clinical heterogeneity and are amenable to drug screening

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dDocent : a RADseq, variant-calling pipeline designed for population genomics of non-model organisms

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Inactivating Variants in <i>ANGPTL4</i> and Risk of Coronary Artery Disease

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In vivo base editing rescues Hutchinson–Gilford progeria syndrome in mice

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Necroptosis activation in Alzheimer's disease

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Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9

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Evaluation and minimization of Cas9-independent off-target DNA editing by cytosine base editors

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A male-expressed rice embryogenic trigger redirected for asexual propagation through seeds

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The GenomeAsia 100K Project enables genetic discoveries across Asia

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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

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