Small island, big genetic discoveries.

Abstract:

:Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations, in studying the genetics of complex human phenotypes.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Lettre G,Hirschhorn JN

doi

10.1038/ng.3426

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

1224-5

issue

11

eissn

1061-4036

issn

1546-1718

pii

ng.3426

journal_volume

47

pub_type

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    doi:10.1038/ng.2213

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    doi:10.1038/ng1415

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  • The genomic landscape of schwannoma.

    abstract::Schwannomas are common peripheral nerve sheath tumors that can cause debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 d...

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    pub_type: 杂志文章

    doi:10.1038/ng.3688

    authors: Agnihotri S,Jalali S,Wilson MR,Danesh A,Li M,Klironomos G,Krieger JR,Mansouri A,Khan O,Mamatjan Y,Landon-Brace N,Tung T,Dowar M,Li T,Bruce JP,Burrell KE,Tonge PD,Alamsahebpour A,Krischek B,Agarwalla PK,Bi WL,Dun

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  • A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.

    abstract::Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous...

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    pub_type: 杂志文章

    doi:10.1038/ng.3771

    authors: Glodzik D,Morganella S,Davies H,Simpson PT,Li Y,Zou X,Diez-Perez J,Staaf J,Alexandrov LB,Smid M,Brinkman AB,Rye IH,Russnes H,Raine K,Purdie CA,Lakhani SR,Thompson AM,Birney E,Stunnenberg HG,van de Vijver MJ,Marten

    更新日期:2017-03-01 00:00:00