11 Result(s)

Article

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

Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx… in npj Genomic Medicine (2023)

Article

Integrating 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...

Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang, Irina Astrovskaya… in Nature Genetics (2022)

Article

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

Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding gene...

Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx… in npj Genomic Medicine (2022)

Article

Pangenome-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...

Jana Ebler, Peter Ebert, Wayne E. Clarke, Tobias Rausch, Peter A. Audano… in Nature Genetics (2022)

Article

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, si...

Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner… in npj Genomic Medicine (2019)

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...

Jeramiah J. Smith, Nataliya Timoshevskaya, Chengxi Ye, Carson Holt… in Nature Genetics (2018)

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.

Jeramiah J. Smith, Nataliya Timoshevskaya, Chengxi Ye, Carson Holt… in Nature Genetics (2018)

Article

The 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...

Jeramiah J. Smith, Nataliya Timoshevskaya, Chengxi Ye, Carson Holt… in Nature Genetics (2018)

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...

Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld… in Nature Genetics (2014)

Article

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Nat. Genet. 43, 585–589 (2011); published online 15 May 2011; corrected after print 9 March 2012 In the version of this article initially published, the missense variant in CNTNAP2 identified in proband 12817 ...

Brian J O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives… in Nature Genetics (2012)

Article

Erratum: Primate segmental duplications: crucibles of evolution, diversity and disease

Nature Reviews Genetics 7, 552–564 (2006) The 'Total SD content' row of in this Review was included in error, and the values that were given in this row are incorrect. The correct version of the table, without...

Jeffrey A. Bailey, Evan E. Eichler in Nature Reviews Genetics (2006)