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Article
Open AccessIntegrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by S...
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Article
Open AccessPangenome-based genome inference allows efficient and accurate genoty** across a wide spectrum of variant classes
Typical genoty** workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces reference biases and comes with substantial computational burden. Further...
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Article
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data from 3,474 families, we investigate another source ...
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Article
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organizat...
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Article
Long-read human genome sequencing and its applications
Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an ac...
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Article
Recurrent inversion toggling and great ape genome evolution
Inversions play an important role in disease and evolution but are difficult to characterize because their breakpoints map to large repeats. We increased by sixfold the number (n = 1,069) of previously reported g...
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Article
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and severity. Inducing contractions of expanded repeats by exo...
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Article
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disr...
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Article
Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
When published, this article did not initially appear open access. This error has been corrected, and the open access status of the paper is noted in all versions of the paper. Additionally, affiliation 16 den...
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Article
Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
In the version of this article initially published, the present addresses for authors Dorit Hockman and Chris Amemiya were switched. The error has been corrected in the HTML and PDF versions of the article.
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Article
Open AccessThe sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
The sea lamprey (Petromyzon marinus) serves as a comparative model for reconstructing vertebrate evolution. To enable more informed analyses, we developed a new assembly of the lamprey germline genome that integr...
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Article
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. ...
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Article
Genetic variation and the de novo assembly of human genomes
Complete de novo assembly of a genome is guaranteed to allow assessment of the full range of genetic variation, although the only mammalian genome assemblies c...
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Article
Excess of rare, inherited truncating mutations in autism
Evan Eichler and colleagues analyze the relative impact of de novo and rare, inherited variants on autism risk. They show a statistically independent role for rare, inherited mutations and implicate several new c...
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Article
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
Evan Eichler and colleagues present a detailed characterization of the chromosome 15q13.3 microdeletion region. They identify complex structural polymorphisms and find that the rearrangement breakpoints cluste...
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Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate genes in regions implicated by large CNVs. They identi...
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Article
Corrigendum: A copy number variation morbidity map of developmental delay
Nat. Genet. 43, 838–846 (2011); published online 14 August 2011; corrected after print 27 August 2014 In the version of this article initially published, in Table 1 and its associated text, there was a calcula...
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Article
Low copy number of the salivary amylase gene predisposes to obesity
Mario Falchi, Philippe Froguel and colleagues report association of a multi-allelic copy number variant encompassing the salivary amylase gene AMY1 with body mass index and risk of obesity.
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Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Frank Kooy, Nathalie Van der Aa and colleagues report that de novo mutations in ADNP cause a syndrome characterized by autism, intellectual disability and facial dysmorphisms. ADNP encodes a transcription factor ...
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Article
Estimating the human mutation rate using autozygosity in a founder population
Evan Eichler and colleagues report an estimate of the mutation rate in humans that is based on the whole-genome sequences of five parent-offspring trios from a Hutterite population and genoty** data from an ...