human genome cohort

Aliases

digital DNA sequence database, reference genome

Related entities (3)

Mentioned in (55)

Papers in which this entity is mentioned.

• Advancing regulatory variant effect prediction with AlphaGenome. (2026)
• Investigation of a global mouse methylome atlas reveals subtype-specific copy number alterations in pediatric cancer models. (2026)
• LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development. (2025)
• Annotating the genome at single-nucleotide resolution with DNA foundation models. (2025)
• MutBERT: probabilistic genome representation improves genomics foundation models. (2025)
• Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
• Machine-guided design of cell-type-targeting cis-regulatory elements. (2024)
• Proving sequence aligners can guarantee accuracy in almost ( log ) time through an average-case analysis of the seed-chain-extend heuristic. (2023)
• Validation of the new EPIC DNA methylation microarray (900K EPIC v2) for high-throughput profiling of the human DNA methylome. (2023)
• A saturated map of common genetic variants associated with human height. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Sequence aligners can guarantee accuracy in almost <i>O</i> ( <i>m</i> log <i>n</i> ) time: a rigorous average-case analysis of the seed-chain-extend heuristic (2022)
• Nanopore sequencing technology, bioinformatics and applications. (2021)
• Structural variation in the sequencing era. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• GenMap: ultra-fast computation of genome mappability. (2020)
• Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
• Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. (2019)
• Exploring the landscape of focal amplifications in cancer using AmpliconArchitect. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Comparison of Illumina 450K and EPIC arrays in placental DNA methylation. (2019)
• Circular DNA elements of chromosomal origin are common in healthy human somatic tissue. (2018)
• Detection of circulating tumour DNA is associated with inferior outcomes in Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group. (2018)
• Nanopore sequencing and assembly of a human genome with ultra-long reads. (2018)
• Impact of cytosine methylation on DNA binding specificities of human transcription factors. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• The Hitchhiker's guide to Hi-C analysis: practical guidelines. (2015)
• Clock-like mutational processes in human somatic cells. (2015)
• Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads. (2014)
• Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. (2014)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. (2013)
• Gene expression in the human brain: the current state of the study of specificity and spatiotemporal dynamics. (2013)
• The Genomic Revolution and Beliefs about Essential Racial Differences: A Backdoor to Eugenics? (2013)
• Characterizing and measuring bias in sequence data. (2013)
• Fast computation and applications of genome mappability. (2012)
• Pathway analysis of genomic data: concepts, methods, and prospects for future development. (2012)
• The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks. (2012)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• Summarizing and correcting the GC content bias in high-throughput sequencing. (2012)
• A hidden Markov model for copy number variant prediction from whole genome resequencing data. (2011)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• Fast and accurate long-read alignment with Burrows-Wheeler transform. (2010)
• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
• The majority of total nuclear-encoded non-ribosomal RNA in a human cell is 'dark matter' un-annotated RNA. (2010)
• Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. (2010)
• Conserved role of intragenic DNA methylation in regulating alternative promoters. (2010)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• The Sequence Alignment/Map format and SAMtools. (2009)
• Fast and accurate short read alignment with Burrows-Wheeler transform. (2009)
• The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
• Genome level analysis of rice mRNA 3'-end processing signals and alternative polyadenylation. (2008)
• Defining diversity, specialization, and gene specificity in transcriptomes through information theory. (2008)
• PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
• Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006)

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