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A draft human pangenome reference

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

Wen-Wei Liao
Mobin Asri
Benedict Paten
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 312-324
Increased mutation and gene conversion within human segmental duplications

A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

Mitchell R. Vollger
Philip C. Dishuck
Evan E. Eichler
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 325-334
The variation and evolution of complete human centromeres

A comparison of two complete sets of human centromeres reveals that the centromeres show at least a 4.1-fold increase in single-nucleotide variation compared with their unique flanks, and up to 3-fold variation in size, resulting from an accelerated mutation rate.

Glennis A. Logsdon
Allison N. Rozanski
Evan E. Eichler
ResearchOpen Access03 Apr 2024
Nature

Volume: 629, P: 136-145
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Evan Eichler and colleagues use single-molecule molecular-inversion probes to sequence the coding and splicing regions of 208 candidate genes in more than 11,730 individuals with neurodevelopmental disorders. They report 91 genes with an excess of de novo or private disruptive mutations, identify 25 genes showing a bias for autism versus intellectual disability, and highlight a network associated with high-functioning autism.

Holly A F Stessman
Bo Xiong
Evan E Eichler
Research13 Feb 2017
Nature Genetics

Volume: 49, P: 515-526
Assembly of 43 human Y chromosomes reveals extensive complexity and variation

De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.

Pille Hallast
Peter Ebert
Charles Lee
Research23 Aug 2023
Nature

Volume: 621, P: 355-364
The structure, function and evolution of a complete human chromosome 8

The complete assembly of human chromosome 8 resolves previous gaps and reveals hidden complex forms of genetic variation, enabling functional and evolutionary characterization of primate centromeres.

Glennis A. Logsdon
Mitchell R. Vollger
Evan E. Eichler
ResearchOpen Access07 Apr 2021
Nature

Volume: 593, P: 101-107
A high-quality bonobo genome refines the analysis of hominid evolution

A high-quality bonobo genome assembly provides insights into incomplete lineage sorting in hominids and its relevance to gene evolution and the genetic relationship among living hominids.

Yafei Mao
Claudia R. Catacchio
Evan E. Eichler
ResearchOpen Access05 May 2021
Nature

Volume: 594, P: 77-81
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
De novo genic mutations among a Chinese autism spectrum disorder cohort

Recurrent sporadic mutations are important risk factors for autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, Eichler, Xia and colleagues analyse risk genes in a large Chinese ASD cohort and find novel recurrences of potential pathogenic significance.

Tianyun Wang
Hui Guo
Evan E. Eichler
ResearchOpen Access08 Nov 2016
Nature Communications

Volume: 7, P: 1-10
The evolution and population diversity of human-specific segmental duplications

Segmental duplications in the genome are regions with the potential for the evolution of phenotypic novelties, but their cataloguing has been technically difficult. Here, the evolution and function of human duplications is characterized.

Megan Y. Dennis
Lana Harshman
Evan E. Eichler
Research17 Feb 2017
Nature Ecology & Evolution

Volume: 1, P: 1-10
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Recent ultra-rare inherited variants implicate new autism candidate risk genes

Analysis of whole-genome sequence data from 3,474 families finds an excess of private, likely gene-disrupting variants in individuals with autism. These variants are under purifying selection and suggest candidate genes not previously associated with autism.

Amy B. Wilfert
Tychele N. Turner
Evan E. Eichler
Research26 Jul 2021
Nature Genetics

Volume: 53, P: 1125-1134
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.

Hui Guo
Elisa Bettella
Evan E. Eichler
ResearchOpen Access15 Oct 2019
Nature Communications

Volume: 10, P: 1-17
Impact and characterization of serial structural variations across humans and great apes

Structural variants (SV) can accumulate in repeat-rich parts of the genome and transform them in unexpected ways. Here, with their new assembly-based genotyper (NAHRwhals), the authors verify multi-step SVs in 37 human loci and identify alleles at risk for copy-number variation.

Wolfram Höps
Tobias Rausch
Fritz J. Sedlazeck
ResearchOpen Access13 Sept 2024
Nature Communications

Volume: 15, P: 1-15
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

This study characterizes the properties of disease-causing mutations that produce sporadic amino acid replacements in proteins of people with autism and developmental delay. The mutations tend to cluster and reoccur at specific regions important to protein function, highlighting for future follow-up ∼200 candidate genes, many involved in neuronal signaling.

Madeleine R Geisheker
Gabriel Heymann
Evan E Eichler
Research19 Jun 2017
Nature Neuroscience

Volume: 20, P: 1043-1051
Recombination between heterologous human acrocentric chromosomes

Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

Andrea Guarracino
Silvia Buonaiuto
Erik Garrison
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 335-343
Pangenome graph construction from genome alignments with Minigraph-Cactus

Constructing genome graphs directly from genome assemblies overcomes single-reference bias.

Glenn Hickey
Jean Monlong
Benedict Paten
Research10 May 2023
Nature Biotechnology

Volume: 42, P: 663-673
A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years

Bokan Bao
Javad Zahiri
Eric Courchesne
ResearchOpen Access20 Oct 2022
Molecular Psychiatry

Volume: 28, P: 822-833
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Giuliana Giannuzzi
Nicolas Chatron
Alexandre Reymond
ResearchOpen Access17 Jun 2022
npj Genomic Medicine

Volume: 7, P: 1-10
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Hui Guo
Michael H. Duyzend
Evan E. Eichler
Research03 Dec 2018
Genetics in Medicine

Volume: 21, P: 1611-1620
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Giuliana Giannuzzi
Nicolas Chatron
Alexandre Reymond
Amendments and CorrectionsOpen Access24 May 2023
npj Genomic Medicine

Volume: 8, P: 1

Search

A draft human pangenome reference

Increased mutation and gene conversion within human segmental duplications

The variation and evolution of complete human centromeres

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

The structure, function and evolution of a complete human chromosome 8

A high-quality bonobo genome refines the analysis of hominid evolution

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

De novo genic mutations among a Chinese autism spectrum disorder cohort

The evolution and population diversity of human-specific segmental duplications

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Recent ultra-rare inherited variants implicate new autism candidate risk genes

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Impact and characterization of serial structural variations across humans and great apes

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Recombination between heterologous human acrocentric chromosomes

Pangenome graph construction from genome alignments with Minigraph-Cactus

A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

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