Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. (Record no. 25912632)

MARC details
000 -LEADER
fixed length control field 02312 a2200757 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517091222.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201706s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1546-1696
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/nbt.3514
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Chen, Rong
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170605
245 00 - TITLE STATEMENT
Title Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature biotechnology
Date of publication, distribution, etc. 05 2016
300 ## - PHYSICAL DESCRIPTION
Extent 531-8 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Mapping
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease Resistance
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Diseases, Inborn
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genome, Human
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mendelian Randomization Analysis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reproducibility of Results
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sensitivity and Specificity
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shi, Lisong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hakenberg, Jörg
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Naughton, Brian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sklar, Pamela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Jianguo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhou, Hanlin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tian, Lifeng
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Prakash, Om
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lemire, Mathieu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sleiman, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cheng, Wei-Yi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Wanting
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shah, Hardik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shen, Yulan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fromer, Menachem
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Omberg, Larsson
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Deardorff, Matthew A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zackai, Elaine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bobe, Jason R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Levin, Elissa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hudson, Thomas J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Groop, Leif
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hakonarson, Hakon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wojcicki, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Diaz, George A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Edelmann, Lisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schadt, Eric E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Friend, Stephen H
773 0# - HOST ITEM ENTRY
Title Nature biotechnology
Related parts vol. 34
-- no. 5
-- p. 531-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/nbt.3514">https://doi.org/10.1038/nbt.3514</a>
Public note Available from publisher's website

No items available.