Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.

scientific article published in December 2017

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. is …
instance of (P31):
scholarly articleQ13442814

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P5530Altmetric DOI10.1093/JNCI/DJX083
P6179Dimensions Publication ID1084602400
P356DOI10.1093/JNCI/DJX083
P953full work available at URLhttp://eprints.whiterose.ac.uk/131469/
P932PMC publication ID5939858
P698PubMed publication ID29522175
P1154Scopus EID2-s2.0-85055343042

P50authorMark Joseph DalyQ39071290
Julia A Newton BishopQ47973102
Mykyta ArtomovQ52803122
Tarjinder SinghQ57615964
P2093author name stringRaj Kumar
Vivek Iyer
D Timothy Bishop
Graham J Mann
Hensin Tsao
Evangelos S Gragoudas
Alexander J Stratigos
Bobby Y Reddy
Elizabeth A Holland
Benchun Miao
Ivana Kim
Martin Lauss
Anne Marie Lane
Carla Daniela Robles-Espinoza
Kristen Shannon
Ching-Ni Njauw
Aravind Sankar
P2860cites workFast and accurate short read alignment with Burrows-Wheeler transformQ24653853
PLINK: a tool set for whole-genome association and population-based linkage analysesQ24677407
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
Rare-variant association analysis: study designs and statistical testsQ26852733
Structural Determination of Functional Domains in Early B-cell Factor (EBF) Family of Transcription Factors Reveals Similarities to Rel DNA-binding Proteins and a Novel Dimerization MotifQ27662927
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
Principal components analysis corrects for stratification in genome-wide association studiesQ27860975
A framework for the interpretation of de novo mutation in human diseaseQ29031873
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Cancer statistics, 2016Q29547383
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect PredictorQ29614870
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipelineQ30872351
Familial Risk and Heritability of Cancer Among Twins in Nordic CountriesQ33874409
Localization of a novel melanoma susceptibility locus to 1p22Q33905176
Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p.Q34046828
Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE).Q34058310
The effect on melanoma risk of genes previously associated with telomere lengthQ34333988
Pigmentation and skin reaction to sun as risk factors for cutaneous melanoma: Western Canada Melanoma StudyQ34555036
Ocular melanoma: an overview of the current statusQ34653896
Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemiaQ35030109
A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaQ35699278
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanomaQ36019187
Association of Common Genetic Polymorphisms with Melanoma Patient IL-12p40 Blood Levels, Risk, and OutcomesQ36087538
Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndromeQ36599686
Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counselingQ36599690
Searching for missing heritability: designing rare variant association studiesQ37543773
Emerging roles of the EBF family of transcription factors in tumor suppressionQ37649247
Genome-wide methylation sequencing of paired primary and metastatic cell lines identifies common DNA methylation changes and a role for EBF3 as a candidate epigenetic driver of melanoma metastasisQ38723959
Personal risk-factor chart for cutaneous melanomaQ39200858
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinomaQ39455824
Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22Q44552643
Assembling a gene regulatory network for specification of the B cell fateQ44742674
Cutaneous melanoma in women. II. Phenotypic characteristics and other host-related factorsQ46120189
Sun Exposure, Phenotypic Characteristics, and Cutaneous Malignant Melanoma. An Analysis According to Different Clinico-Pathological Variants and Anatomic Locations (Italy)Q57244494
Genome-wide search for nevus density shows linkage to two melanoma loci on chromosome 9 and identifies a new QTL on 5q31 in an adult twin cohortQ57314586
Risk of cutaneous melanoma associated with a family history of the diseaseQ58283406
Suntan, sunburn, and pigmentation factors and the frequency of acquired melanocytic nevi in children. Similarities to melanoma: the Vancouver Mole StudyQ68799967
High risk of malignant melanoma in melanoma-prone families with dysplastic neviQ70068212
Pigmentary traits, ethnic origin, benign nevi, and family history as risk factors for cutaneous malignant melanomaQ70927503
Dysplastic naevi and cutaneous melanoma riskQ72565071
Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32Q81241482
P433issue12
P407language of work or nameEnglishQ1860
P577publication date2017-12-01
P1433published inJournal of the National Cancer InstituteQ400279
P1476titleRare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing
P478volume109

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cites work (P2860)
Q62489975Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics
Q57282544CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters
Q100533853Cancer risks associated with the germline MITF(E318K) variant
Q91341465Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes
Q92137491Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer
Q64974989Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

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