E-LIB Suche - Ergebnisse für: NHLBI Exome Sequencing Project

1

Exome sequencing identifies rare LDLR and APOA5 alleles con..:

NHLBI Exome Sequencing Project ; Do, Ron ; Stitziel, Nathan O....
Nature. 518 (2014) 7537 - p. 102-106 , 2014

Link: https://doi.org/10.1038/..

2

Analysis of 6,515 exomes reveals the recent origin of most ..:

Fu, Wenqing ; O'Connor, Timothy D. ; Jun, Goo...
Nature. 493 (2012) 7431 - p. 216-220 , 2012

Link: https://doi.org/10.1038/..

3

Copy number variation detection and genotyping from exome s..:

Krumm, Niklas ; Sudmant, Peter H. ; Ko, Arthur...
Genome Research. 22 (2012) 8 - p. 1525-1532 , 2012

Link: https://doi.org/10.1101/..

4

Analysis of exome sequencing data sets reveals structural v..:

Fox, Keolu ; Johnsen, Jill M. ; Coe, Bradley P....
Transfusion. 56 (2016) 11 - p. 2744-2749 , 2016

Link: https://doi.org/10.1111/..

5

Rare loss of function variants in candidate genes and risk ..:

NHLBI GO Exome Sequencing Project ; Rosenthal, Elisabeth A. ; Shirts, Brian H....
Human Genetics. 137 (2018) 10 - p. 795-806 , 2018

Link: https://doi.org/10.1007/..

6

Whole Exome Sequencing in Atrial Fibrillation:

Lubitz, Steven A. ; Brody, Jennifer A. ; Bihlmeyer, Nathan A....
PLOS Genetics. 12 (2016) 9 - p. e1006284 , 2016

Link: https://doi.org/10.1371/..

7

Correction: Exome Sequencing of Phenotypic Extremes Identif..:

Emond, Mary J. ; Louie, Tin ; Emerson, Julia...
PLOS Genetics. 11 (2015) 8 - p. e1005424 , 2015

Link: https://doi.org/10.1371/..

8

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and..:

Emond, Mary J. ; Louie, Tin ; Emerson, Julia...
PLOS Genetics. 11 (2015) 6 - p. e1005273 , 2015

Link: https://doi.org/10.1371/..

9

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the ..:

Fu, Wenqing ; O'Connor, Timothy D. ; Jun, Goo...
Nature. 495 (2013) 7440 - p. 270-270 , 2013

Link: https://doi.org/10.1038/..

10

Evolution and Functional Impact of Rare Coding Variation fr..:

Tennessen, Jacob A. ; Bigham, Abigail W. ; O'Connor, Timothy D....
Science. 337 (2012) 6090 - p. 64-69 , 2012

Link: https://doi.org/10.1126/..

11

Rare variant associations with waist-to-hip ratio in Europe..:

NHLBI-Exome Sequencing Project ; Kan, Mengyuan ; Auer, Paul L...
European Journal of Human Genetics. 24 (2016) 8 - p. 1181-1187 , 2016

Link: https://doi.org/10.1038/..

12

A Variational Bayes Discrete Mixture Test for Rare Variant ..:

Logsdon, Benjamin A. ; Dai, James Y. ; Auer, Paul L....
Genetic Epidemiology. 38 (2013) 1 - p. 21-30 , 2013

Link: https://doi.org/10.1002/..

13

Quantifying rare, deleterious variation in 12 human cytochr..:

Gordon, A. S. ; Tabor, H. K. ; Johnson, A. D....
Human Molecular Genetics. 23 (2013) 8 - p. 1957-1963 , 2013

Link: https://doi.org/10.1093/..

14

Rare loss of function variants in candidate genes and risk ..:

Rosenthal, EA ; Shirts, BH ; Amendola, LM...
https://discovery.ucl.ac.uk/id/eprint/10078413/3/Hardy_rosenthal%20CRC-paper-Revised-2018-09-17%20%28002%29.pdf. , 2018

Link: https://discovery.ucl.ac..

15

Rare loss of function variants in candidate genes and risk ..:

Rosenthal, Elisabeth A ; Shirts, Brian H ; Amendola, Laura M...
qt23p7p5p8. , 2018

Link: https://escholarship.org..