Integrative annotation of variants from 1092 humans: application to cancer genomics (Q22065599)

13

Suganthi

ORCID Public Data File 2021

Balasubramanian

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Daniel G MacArthur

33

Daniel G

MacArthur

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Andrew G. Clark

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ORCID Public Data File 2021

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ORCID Public Data File 2021

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Graham R S Ritchie

Graham R S

Ritchie

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24

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Garrison

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Gabor Marth

Gabor

Marth

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42

Yali Xue

Yali

Xue

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Emmanouil Dermitzakis

45

object named as

Emmanouil T Dermitzakis

Emmanouil T

Dermitzakis

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7 February 2023

4

Xinmeng Jasmine

Mu

Xinmeng Jasmine Mu

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7 February 2023

1

Ekta

Khurana

Ekta Khurana

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8

Lucas

Lochovsky

Lucas Lochovsky

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10

Arif

Harmanci

Arif Harmanci

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7 February 2023

15

Dimple

Chakravarty

Dimple Chakravarty

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7 February 2023

16

Daniel

Challis

Daniel Challis

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23

Robert Fragoza

Robert

Fragoza

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Yao Fu

2

Yao

Fu

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7 February 2023

Hyun Min Kang

5

Hyun Min

Kang

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7 February 2023

Yuan Chen

17

Yuan

Chen

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7 February 2023

Declan Clarke

18

Declan

Clarke

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7 February 2023

Uday S Evani

21

Uday S

Evani

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Zeynep H Gümüs

26

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Naoki Kitabayashi

28

Naoki

Kitabayashi

1 reference

7 February 2023

Kasper Lage

30

Kasper

Lage

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Vaja Liluashvili

31

Vaja

Liluashvili

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Steven M Lipkin

32

Steven M

Lipkin

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Jeffrey A Rosenfeld

38

Jeffrey A

Rosenfeld

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7 February 2023

Xiaomu Wei

40

Xiaomu

Wei

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7 February 2023

Fuli Yu

43

Fuli

Yu

1 reference

7 February 2023

Haiyuan Yu

46

Haiyuan

An integrated map of genetic variation from 1,092 human genomes

Yu

1 reference

7 February 2023

language of work or name

English

0 references

publication date

4 October 2013

0 references

published in

Science

0 references

volume

342

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issue

6154

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page(s)

1235587

0 references

cites work

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Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

19 March 2017

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Mutational processes molding the genomes of 21 breast cancers

19 March 2017

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19 March 2017

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Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates

19 March 2017

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19 March 2017

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19 March 2017

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Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

19 March 2017

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Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection

19 March 2017

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Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus

19 March 2017

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Ultraconserved Elements in the Human Genome

19 March 2017

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Integrated genomic analyses of ovarian carcinoma

19 March 2017

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Evo-Devo and an Expanding Evolutionary Synthesis: A Genetic Theory of Morphological Evolution

19 March 2017

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Comprehensive genomic characterization of squamous cell lung cancers

19 March 2017

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Natural selection has driven population differentiation in modern humans

19 March 2017

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Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

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19 March 2017

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Natural selection on genes that underlie human disease susceptibility

6 April 2017

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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

22 April 2017

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GENCODE: the reference human genome annotation for The ENCODE Project

22 April 2017

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Statistical significance for genomewide studies

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

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Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project

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The accessible chromatin landscape of the human genome

22 April 2017

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Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein

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p31comet blocks Mad2 activation through structural mimicry

22 April 2017

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Identification of a MAD2-binding protein, CMT2, and its role in mitosis

22 April 2017

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Towards a proteome-scale map of the human protein–protein interaction network

22 April 2017

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22 April 2017

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hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes

22 April 2017

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22 April 2017

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High-quality binary protein interaction map of the yeast interactome network

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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

22 April 2017

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In-silico human genomics with GeneCards

22 April 2017

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

22 April 2017

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Highly recurrent TERT promoter mutations in human melanoma

22 April 2017

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TERT promoter mutations in familial and sporadic melanoma

7 April 2017

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Systematic localization of common disease-associated variation in regulatory DNA

7 April 2017

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Architecture of the human regulatory network derived from ENCODE data

7 April 2017

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Personal omics profiling reveals dynamic molecular and medical phenotypes

7 April 2017

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Positive natural selection in the human lineage

7 April 2017

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Evolutionary rate in the protein interaction network

7 April 2017

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A systematic survey of loss-of-function variants in human protein-coding genes

7 April 2017

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A census of human transcription factors: function, expression and evolution

22 April 2017

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A human phenome-interactome network of protein complexes implicated in genetic disorders

22 April 2017

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The mutational landscape of lethal castration-resistant prostate cancer

22 April 2017

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Punctuated evolution of prostate cancer genomes

22 April 2017

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TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

12 September 2017

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Interpretation of genomic variants using a unified biological network approach

12 September 2017

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Identifying recent adaptations in large-scale genomic data

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Interpreting noncoding genetic variation in complex traits and human disease

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Personal and population genomics of human regulatory variation

12 September 2017

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Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

12 September 2017

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Classic selective sweeps were rare in recent human evolution

12 September 2017

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Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

12 September 2017

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Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation

12 September 2017

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The promise and reality of personal genomics

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Analytical methods for inferring functional effects of single base pair substitutions in human cancers

12 September 2017

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Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution.

12 September 2017

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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

12 September 2017

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The Human Gene Mutation Database: 2008 update

12 September 2017

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Evidence of abundant purifying selection in humans for recently acquired regulatory functions

30 May 2018

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Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 January 2018

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DEG: a database of essential genes

21 January 2018

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Null mutations in human and mouse orthologs frequently result in different phenotypes

21 January 2018

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Fast and flexible simulation of DNA sequence data

21 January 2018

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Demographic history and rare allele sharing among human populations

21 January 2018

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Human genome ultraconserved elements are ultraselected

21 January 2018

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AlleleSeq: analysis of allele-specific expression and binding in a network framework

21 January 2018

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Rare and common regulatory variation in population-scale sequenced human genomes

21 January 2018

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HINT: High-quality protein interactomes and their applications in understanding human disease

21 January 2018

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The MIPS mammalian protein-protein interaction database

21 January 2018

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iPfam: visualization of protein-protein interactions in PDB at domain and amino acid resolutions

21 January 2018

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Edgetic perturbation models of human inherited disorders

21 January 2018

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CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer

21 January 2018

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VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment

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Molecular characterization of neuroendocrine prostate cancer and identification of new drug targets

21 January 2018

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