The road ahead in genetics and genomics

Silencing Trisomy 21 with XIST in Neural Stem Cells Promotes Neuronal Differentiation

(2020) Jan Tomasz Czermiński et al.   DEVELOPMENTAL CELL

Phase-separation in chromatin organization

(2020) Geeta J Narlikar   JOURNAL OF BIOSCIENCES

Pan-cancer analysis of whole genomes

(2020)   NATURE

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Axes of a revolution: challenges and promises of big data in healthcare

(2020) Smadar Shilo et al.   NATURE MEDICINE

Single-cell multimodal omics: the power of many

(2020) Chenxu Zhu et al.   NATURE METHODS

Towards a comprehensive catalogue of validated and target-linked human enhancers

(2020) Molly Gasperini et al.   NATURE REVIEWS GENETICS

Genetics of schizophrenia in the South African Xhosa

(2020) S. Gulsuner et al.   SCIENCE

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease

(2020) Shaon Basu et al.   CELL

The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes

(2020) Laurits Skov et al.   NATURE

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

(2020) Konrad J. Karczewski et al.   NATURE

Spen links RNA-mediated endogenous retrovirus silencing and X chromosome inactivation

(2020) Ava C Carter et al.   eLife

The importance of including ethnically diverse populations in studies of quantitative trait evolution

(2020) Michael A McQuillan et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

African population history: an ancient DNA perspective

(2020) Mário Vicente et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Epigenetic regulator function through mouse gastrulation

(2020) Stefanie Grosswendt et al.   NATURE

Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors

(2020) Andrew V. Anzalone et al.   NATURE BIOTECHNOLOGY

Integrative single-cell analysis

(2019) Tim Stuart et al.   NATURE REVIEWS GENETICS

Highly efficient therapeutic gene editing of human hematopoietic stem cells

(2019) Yuxuan Wu et al.   NATURE MEDICINE

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

The single-cell transcriptional landscape of mammalian organogenesis

(2019) Junyue Cao et al.   NATURE

Local Determinants of the Mutational Landscape of the Human Genome

(2019) Abel Gonzalez-Perez et al.   CELL

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

(2019) Mashaal Sohail et al.   eLife

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression

(2019) Yad Ghavi-Helm et al.   NATURE GENETICS

Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

(2019) Alexandra Despang et al.   NATURE GENETICS

Genomics of disease risk in globally diverse populations

(2019) Deepti Gurdasani et al.   NATURE REVIEWS GENETICS

Roles and regulation of histone methylation in animal development

(2019) Ashwini Jambhekar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Gene Therapy

(2019) Katherine A. High et al.   NEW ENGLAND JOURNAL OF MEDICINE

Discovery and inhibition of an interspecies gut bacterial pathway for Levodopa metabolism

(2019) Vayu Maini Rekdal et al.   SCIENCE

ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response

(2019) Adebowale A. Adeyemo et al.   Nature Communications

Chromatin topology, condensates and gene regulation: shifting paradigms or just a phase?

(2019) Mustafa Mir et al.   DEVELOPMENT

Enhancer Features that Drive Formation of Transcriptional Condensates

(2019) Krishna Shrinivas et al.   MOLECULAR CELL

Asymmetric lysosome inheritance predicts activation of haematopoietic stem cells

(2019) Dirk Loeffler et al.   NATURE

Risk of being killed by police use of force in the United States by age, race–ethnicity, and sex

(2019) Frank Edwards et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mapping human cell phenotypes to genotypes with single-cell genomics

(2019) J. Gray Camp et al.   SCIENCE

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

(2019) Deepti Gurdasani et al.   CELL

Developmental Plasticity and Cellular Reprogramming in Caenorhabditis elegans

(2019) Joel Rothman et al.   GENETICS

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Returning incidental findings in African genomics research

(2019) Ambroise Wonkam et al.   NATURE GENETICS

The mutational footprints of cancer therapies

(2019) Oriol Pich et al.   NATURE GENETICS

The GenomeAsia 100K Project enables genetic discoveries across Asia

(2019)   NATURE

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

(2019) Madeline H. Kowalski et al.   PLoS Genetics

Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase

(2018) Daniel Shriner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ancient Human Genomics: The First Decade

(2018) Pontus Skoglund et al.   Annual Review of Genomics and Human Genetics

Functional Classification and Experimental Dissection of Long Noncoding RNAs

(2018) Florian Kopp et al.   CELL

Single-Cell Transcriptomics Meets Lineage Tracing

(2018) Lennart Kester et al.   Cell Stem Cell

High‐throughput identification of RNA nuclear enrichment sequences

(2018) Chinmay J Shukla et al.   EMBO JOURNAL

Repair of double-strand breaks induced by CRISPR–Cas9 leads to large deletions and complex rearrangements

(2018) Michael Kosicki et al.   NATURE BIOTECHNOLOGY

The dTAG system for immediate and target-specific protein degradation

(2018) Behnam Nabet et al.   Nature Chemical Biology

Single-cell reconstruction of developmental trajectories during zebrafish embryogenesis

(2018) Jeffrey A. Farrell et al.   SCIENCE

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

(2018) Eran Kotler et al.   MOLECULAR CELL

The cis-regulatory dynamics of embryonic development at single-cell resolution

(2018) Darren A. Cusanovich et al.   NATURE

Sequences enriched in Alu repeats drive nuclear localization of long RNAs in human cells

(2018) Yoav Lubelsky et al.   NATURE

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Functional classification of long non-coding RNAs by k-mer content

(2018) Jessime M. Kirk et al.   NATURE GENETICS

Joint profiling of chromatin accessibility and gene expression in thousands of single cells

(2018) Junyue Cao et al.   SCIENCE

Coupled Single-Cell CRISPR Screening and Epigenomic Profiling Reveals Causal Gene Regulatory Networks

(2018) Adam J. Rubin et al.   CELL

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

(2018) Alice B. Popejoy et al.   HUMAN MUTATION

Transcriptional recording by CRISPR spacer acquisition from RNA

(2018) Florian Schmidt et al.   NATURE

Age-related remodelling of oesophageal epithelia by mutated cancer drivers

(2018) Akira Yokoyama et al.   NATURE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Assembly of a pan-genome from deep sequencing of 910 humans of African descent

(2018) Rachel M. Sherman et al.   NATURE GENETICS

Somatic mutant clones colonize the human esophagus with age

(2018) Iñigo Martincorena et al.   SCIENCE

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

The Human Cell Atlas: from vision to reality

(2017) Orit Rozenblatt-Rosen et al.   NATURE

Epigenetic restriction of extraembryonic lineages mirrors the somatic transition to cancer

(2017) Zachary D. Smith et al.   NATURE

Correction of a pathogenic gene mutation in human embryos

(2017) Hong Ma et al.   NATURE

Biomolecular condensates: organizers of cellular biochemistry

(2017) Salman F. Banani et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Comprehensive single-cell transcriptional profiling of a multicellular organism

(2017) Junyue Cao et al.   SCIENCE

Loci associated with skin pigmentation identified in African populations

(2017) Nicholas G. Crawford et al.   SCIENCE

The promise of spatial transcriptomics for neuroscience in the era of molecular cell typing

(2017) Ed Lein et al.   SCIENCE

OSBPL10, RXRA and lipid metabolism confer African-ancestry protection against dengue haemorrhagic fever in admixed Cubans

(2017) Beatriz Sierra et al.   PLoS Pathogens

Using Big Data to Emulate a Target Trial When a Randomized Trial Is Not Available: Table 1.

(2016) Miguel A. Hernán et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families

(2016) Aravinda Chakravarti et al.   BIOESSAYS

Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease

(2016) Sumantra Chatterjee et al.   CELL

Modeling Development and Disease with Organoids

(2016) Hans Clevers   CELL

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families

(2016) K. Lebeko et al.   CLINICAL GENETICS

Rapid evolutionary turnover underlies conserved lncRNA–genome interactions

(2016) Jeffrey J. Quinn et al.   GENES & DEVELOPMENT

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

Genome editing comes of age

(2016) Jin-Soo Kim   Nature Protocols

Unique features of long non-coding RNA biogenesis and function

(2016) Jeffrey J. Quinn et al.   NATURE REVIEWS GENETICS

Will Precision Medicine Move Us beyond Race?

(2016) Vence L. Bonham et al.   NEW ENGLAND JOURNAL OF MEDICINE

Targeted nucleotide editing using hybrid prokaryotic and vertebrate adaptive immune systems

(2016) K. Nishida et al.   SCIENCE

The FAIR Guiding Principles for scientific data management and stewardship

(2016) Mark D. Wilkinson et al.   Scientific Data

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Cancer Driver Log (CanDL)

(2015) Senthilkumar Damodaran et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Spatial reconstruction of single-cell gene expression data

(2015) Rahul Satija et al.   NATURE BIOTECHNOLOGY

High-throughput spatial mapping of single-cell RNA-seq data to tissue of origin

(2015) Kaia Achim et al.   NATURE BIOTECHNOLOGY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

Digenome-seq: genome-wide profiling of CRISPR-Cas9 off-target effects in human cells

(2015) Daesik Kim et al.   NATURE METHODS

Evidence for archaic adaptive introgression in humans

(2015) Fernando Racimo et al.   NATURE REVIEWS GENETICS

High burden and pervasive positive selection of somatic mutations in normal human skin

(2015) I. Martincorena et al.   SCIENCE

GUIDE-seq enables genome-wide profiling of off-target cleavage by CRISPR-Cas nucleases

(2014) Shengdar Q Tsai et al.   NATURE BIOTECHNOLOGY

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

(2013)   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data

(2013) Job Dekker et al.   NATURE REVIEWS GENETICS

The UK Biobank and selection bias

(2012) James M Swanson   LANCET

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Transient Regenerative Potential of the Neonatal Mouse Heart

(2011) E. R. Porrello et al.   SCIENCE

Emerging properties of animal gene regulatory networks

(2010) Eric H. Davidson   NATURE

Ten years of genetics and genomics: what have we achieved and where are we heading?

(2010) Edith Heard et al.   NATURE REVIEWS GENETICS

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

mRNA-Seq whole-transcriptome analysis of a single cell

(2009) Fuchou Tang et al.   NATURE METHODS

Predicting expression patterns from regulatory sequence in Drosophila segmentation

(2008) Eran Segal et al.   NATURE