A structural variation reference for medical and population genetics (Q95933922)

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31 May 2020

title

A structural variation reference for medical and population genetics (English)

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

Anne H O'Donnell-Luria

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

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31 May 2020

Eric Lander

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31 May 2020

Mark J Daly

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31 May 2020

Yii-Der Ida Chen

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31 May 2020

Valentin Ruano-Rubio

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31 May 2020

Eric Banks

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31 May 2020

Laura D Gauthier

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31 May 2020

Namrata Gupta

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31 May 2020

Grace Tiao

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31 May 2020

Harrison Brand

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31 May 2020

Nicholas A Watts

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31 May 2020

Matthew Solomonson

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31 May 2020

Ruchi Munshi

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31 May 2020

Kristen M Laricchia

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31 May 2020

Wendy S Post

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31 May 2020

Amit V Khera

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31 May 2020

Chelsea Lowther

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31 May 2020

Harold Wang

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31 May 2020

Alexander Baumann

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31 May 2020

Mark Walker

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31 May 2020

Yongqing Huang

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31 May 2020

Ted Brookings

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31 May 2020

Ted Sharpe

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31 May 2020

Matthew R Stone

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31 May 2020

Jack Fu

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31 May 2020

Christine Stevens

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31 May 2020

Caroline Cusick

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31 May 2020

Lauren Margolin

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31 May 2020

Genome Aggregation Database Production Team

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31 May 2020

Genome Aggregation Database Consortium

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31 May 2020

Henry J Lin

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31 May 2020

Chad Nusbaum

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31 May 2020

Anthony Philippakis

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31 May 2020

Stacey Gabriel

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31 May 2020

language of work or name

English

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publication date

27 May 2020

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31 May 2020

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31 May 2020

volume

581

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31 May 2020

issue

7809

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31 May 2020

page(s)

444-451

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An integrated map of structural variation in 2,504 human genomes

31 May 2020

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Analysis of protein-coding genetic variation in 60,706 humans

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7 January 2021

The ExAC browser: displaying reference data information from over 60 000 exomes

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Strong association of de novo copy number mutations with autism

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

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The functional impact of structural variation in humans

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

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7 January 2021

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

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Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.

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The impact of structural variation on human gene expression

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7 January 2021

Paternally inherited cis-regulatory structural variants are associated with autism.

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7 January 2021

Genomic Patterns of De Novo Mutation in Simplex Autism.

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7 January 2021

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

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7 January 2021

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

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7 January 2021

Characterizing the Major Structural Variant Alleles of the Human Genome

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7 January 2021

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

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7 January 2021

Origins and functional impact of copy number variation in the human genome

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On the number of segregating sites in genetical models without recombination

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Human adaptation and evolution by segmental duplication

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Selection in the evolution of gene duplications

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Characterising and predicting haploinsufficiency in the human genome.

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7 January 2021

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

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7 January 2021

Formation of new chromatin domains determines pathogenicity of genomic duplications

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7 January 2021

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

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7 January 2021

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

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7 January 2021

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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7 January 2021

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Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Discovery and genotyping of structural variation from long-read haploid genome sequence data.

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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5 October 2024

https://opencitations.net/index/api/v1/citations/10.1038/NCOMMS12989

Identifiers

DOI

10.1038/S41586-020-2287-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32461652%20AND%20SRC:MED&resulttype=core&format=json

journals/nature/CollinsBKZAFKLG20

31 May 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

7334194

0 references

1 reference

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