Difference between revisions of "Molecular pathology"

Jump to navigation Jump to search
1,248 bytes added ,  11:02, 3 May 2019
→‎Data formats: NCBI repositories
(→‎Data formats: NCBI repositories)
(2 intermediate revisions by 2 users not shown)
Line 119: Line 119:
| rarely done; follows karyotyping to better characterize unusual cases; can be thought of as a karyotype and a simultaneous ISH
| rarely done; follows karyotyping to better characterize unusual cases; can be thought of as a karyotype and a simultaneous ISH
|}
|}
==Data formats==
Human gene naming is provided by the HUGO Gene Nomenclature Committee: https://www.genenames.org/
DNA data repositories
* NCBI: National Center for Biotechnology Information
**Standard sequencing data is usually located in Nucleotide database: https://www.ncbi.nlm.nih.gov/nuccore
**Next-gen sequencing data is in short read archive: https://www.ncbi.nlm.nih.gov/sra/docs/submit/
* EMBL: European Molecular Biology Laboratory
* DDBJ: DNA Data Bank of Japan
DNA sequence data formats
* GenBank: human readable, can be processed by computer (fixed width, first 10 characters are an identifier).
** NCBI Reference Sequence (RefSeq) project provides sequence records and related information.
** Prefix AC_ in acession number is for genomic data, NM_ is for mRNA.
* FASTA: Sequence information
** Header starts with > and is followed by a sequence ID.
** Sequence lines should wrap always at the same width.
** Lower-case letters may indicate repetitive regions.
* FASTQ: Current standard for sequencing data
** It is essentially FASTA with quality values for the sequence.
** Quality is on a scale from 0 - 40 and represented by a distinct character.
** Upper case letters ABCDEFGHI means high quality.
** Special letters !"#$%&'()*+,-. mean low quality.


==Polymerase chain reaction-based techniques==
==Polymerase chain reaction-based techniques==
Line 169: Line 194:
==Miscellaneous stuff==
==Miscellaneous stuff==
===World protein databank===
===World protein databank===
I can't help think it is ironic that the protein databank goal is to maintain a free and publicly available archive,<ref>Worldwide Protein Data Bank. URL: [http://www.wwpdb.org/faq.html http://www.wwpdb.org/faq.html] Accessed on: April 22, 2009.</ref> yet the announcement is in pay-for-access journal (''Nature Structual Biology'').<ref name=pmid14634627>{{cite journal |author=Berman H, Henrick K, Nakamura H |title=Announcing the worldwide Protein Data Bank |journal=Nat. Struct. Biol. |volume=10 |issue=12 |pages=980 |year=2003 |month=December |pmid=14634627 |doi=10.1038/nsb1203-980 |url=}}</ref>
The protein databank's goal is to maintain a free and publicly available archive.<ref>Worldwide Protein Data Bank. URL: [http://www.wwpdb.org/faq.html http://www.wwpdb.org/faq.html] Accessed on: April 22, 2009.</ref> Ironically, its announcement is in a pay-for-access journal (''Nature Structual Biology'').<ref name=pmid14634627>{{cite journal |author=Berman H, Henrick K, Nakamura H |title=Announcing the worldwide Protein Data Bank |journal=Nat. Struct. Biol. |volume=10 |issue=12 |pages=980 |year=2003 |month=December |pmid=14634627 |doi=10.1038/nsb1203-980 |url=}}</ref>


===Wnt/beta-catenin pathway===
===Wnt/beta-catenin pathway===
Account-creators
1,040

edits

Navigation menu