Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. (Record no. 22638837)

MARC details
000 -LEADER
fixed length control field 01584 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516143215.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201401s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.22322
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 Carr, Ian M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140127
245 00 - TITLE STATEMENT
Title Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Jul 2013
300 ## - PHYSICAL DESCRIPTION
Extent 945-52 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Computational Biology
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Variation
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 Polymorphism, Single Nucleotide
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Software
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morgan, Joanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Watson, Christopher
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Melnik, Svitlana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Diggle, Christine P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Logan, Clare V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Harrison, Sally M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, Graham R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pena, Sergio D J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Markham, Alexander F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alkuraya, Fowzan S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Black, Graeme C M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ali, Manir
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonthron, David T
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 34
-- no. 7
-- p. 945-52
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.22322">https://doi.org/10.1002/humu.22322</a>
Public note Available from publisher's website

No items available.