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Genetics and Genomics (AOKGEN738_1A)
Faculty of Medicine, II. Semester 201/2022

Topic list

Zoom URL of the lecture on 6 and 13 May: https://semmelweis.zoom.us/j/93407451854

 

Lectures

Friday 13:00 – 14:30, 
NET Selye (Green) Hall

 Practices

1st week
(Jan 31 - Feb 4)

Introduction to human genetics
ppt / with voice: video

Atypical mitosis, typical and atypical meiosis
ppt

2nd week
(Feb 7-11)

Chromosomal aberrations
ppt / with voice: ppt

Cytogenetics I
ppt

3rd week
(Feb 14-18)

Genetic variations
ppt / with voice: video

Cytogenetics II
ppt

Zoom consultation (16 Febr, 19:00-20:00)
https://semmelweis.zoom.us/j/91427503344

 4th week
(Feb 21-25)

Epigenetics
ppt / with voice: video

Introduction to pedigree analysis
ppt

5th week
(Feb 28 - Mar 4)

Monogenic inheritance I
(Autosomal inheritance)
ppt / with voice video

Autosomal dominant inheritance (AD I)
ppt

Midterm I
doc
Zoom consultation (2 March, 18:00-19:00)
https://semmelweis.zoom.us/j/94462349965

6th week
(Mar 7-11)

Monogenic inheritance II
(Autosomal inheritance)
ppt

Autosomal dominant inheritance (AD II)

7th week
(Mar 14-18)*

Role of sex in inheritance
ppt / with voice: video

Autosomal recessive inheritance (AR I)
ppt

Zoom consultation (16 March, 19:00-20:00)
https://semmelweis.zoom.us/j/96224226064

8th week
(Mar 21-26)

Genetics of biological processes
ppt / with voice: video

Autosomal recessive inheritance (AR II)
ppt

9th week
(Mar 28 - Apr 1)

Introduction to genomics
ppt / with voice: video

Sex-linked inheritance
ppt

Zoom consultation (30 March, 18:00-19:00)
https://semmelweis.zoom.us/j/94462349965

10th week
(Apr 4-8)

Methods in genomics,
Systems biology
ppt / with voice: video

Complex inheritance I
ppt

Midterm II
doc

11th week
(Apr 19-22)**

Complex inheritance
Population genetics
ppt / with voice: video

Complex inheritance II
ppt

Zoom consultation (20 Apr, 19:00-20:00)
https://semmelweis.zoom.us/j/92296476452

12th week
(Apr 25-29)

Gene therapy
ppt / with voice: video

Gametogenesis, prenatal genetic testing
ppt

13th week
(May 2-6)

Competition (5 May) - for more information see "Competition" tab 

Pharmacogenomics and nutrigenomics
ppt

Gene therapy
ppt

Zoom consultation (4 May, 18:00-19:00)
https://semmelweis.zoom.us/j/94462349965

14th week
(May 9-13)

Genome and environment,
Evolution genetics

From genes to bedside
ppt

 

 

Course information

Prerequisite subject: Molecular Cell Biology I., Medical Biochemistry II.
Credits: 3
Attendance:  75% of the practicals
Exam: written test in the examination period

 

The Department of Genetics, Cell- and Immunobiology offers Genetics and Genomics course for 2nd year English Medicine students in the second semester.
In the case of having Genetics credits from other university, claim for exemption has to be handed to Dr. Hargita Hegyesi (tutor) not later than 28th of February

Genetics and Genomics course provides basic knowledge on general and human genetics and genomics. The course has lecture and practice (laboratory) parts. According to the Academic and Examination Rules, the students must visit at least 75% of the practicals. This is the requirement for the validity of the semester. More than three absences from the practice invalidate the semester, no signature is given. There are no extra practices. In the case of an acute illness, students may attend other practices with the permission of the tutor.

In the first semester you have two midterm tests on Moodle (15 multiple choice questions for 15 points): on the 5th and the 10th week during the practice. Both practice and lecture knowledge will be tested.

Five times in the lectures, you can also collect points based on three questions (max 15 in total). On the lectures, students can answer three questions on a zoom interface, so please have a suitable tool (phone, etc.) to participate. The current zoom link is provided in-situ at the presentation.

Maximum 3 bonus scores are offered for the two midterms:

Achievement for the two midterms + lecture points

Bonus scores

0-21

0

22-29

1

30-37

2

38-45

3

At the end of the semester your performance will be evaluated according to the total scores. During the semester maximum 3 bonus scores can be collected and will be added to the exams scores as bonus scores (see below). Bonus points are only credited to those who have more than 50 % of the exam scores.

Competition (written) will be on the 13th week, every students with 2 bonus scores (calculated from the two midterms and lecture points) are invited.


Examination info

The semester is finished by a written exam (multiple choice and essay questions, family tree, kariogram, evaluation of molecular genetic studies etc.)  For passing (Grade 2-5), you have to reach more than 50 % of the exam scores. The final exam grade will be calculated from the sum of exam scores and bonus scores. The exam questions are based on the e-book, lecture and practice presentations and handouts. Please, see “Exam” tab on our webpage in the examination period, for more information about the exams.

The exam days will be published one month before the beginning of the examination period. Signing up and modification of the exam days can be arranged exclusively online by the students’ registration system (NEPTUN). If you want to change your exam day, first you have to cancel your earlier sign up. Please consider the registration deadlines for the exams. The time, the place and number of students may change after your registration, so check these parameters before the exam. 


Literature:

  • Genetics and genomics (e-book): http://gsi.semmelweis.hu/index.php/en/ (The user name and password is on course datasheet of the Neptun)
  • Lecture and practice presentations: http://gsi.semmelweis.hu/index.php/en/

 

Contacts

Job title

Name

Room

Tutor

Hargita Hegyesi, PhD
(This email address is being protected from spambots. You need JavaScript enabled to view it.)

NET 621

Head of the Department

Prof. Edit Buzás, PhD, DSC

NET 717

 

Ebook

 

Genetics and genomics ebook:  pdf (updated version of 2021)

Genetics and genomics glossary: pdf (glossary of terms introduced during the semester, you can expect to find them in the competition and exam tests)

 

 

Exam

 

 Exam information: doc

 Exam topic list: pdf

 

 

 

Consultation

 

Genetics and genomics consultations in the exam period (online)

Date

 

Time

 

Zoom URL

16 May

 

10:00-11:00

 

https://semmelweis.zoom.us/j/94976299488?pwd=Z0FST0hHSnBEdk05ZzZMbTVtVmtBUT09
Passcode: 177732  

23 May

 

10:00-11:00

 

https://semmelweis.zoom.us/j/94976299488?pwd=Z0FST0hHSnBEdk05ZzZMbTVtVmtBUT09
Passcode: 177732 

30 May

 

8:00-9:00

 

https://semmelweis.zoom.us/j/95964620765

3 June

 

8:30-9:30

 

https://semmelweis.zoom.us/j/95784294565

13 June

 

10:00-11:00

 

https://semmelweis.zoom.us/j/94462349965

20 June

 

11:00-12:00

 

https://semmelweis.zoom.us/j/97265356879

27 June

 

8:45-9:30

 

https://semmelweis.zoom.us/j/95964620765

  

---
Dear Students!

For those who missed the practice (Genetics & Genomics) due to Covid infection or were in quarantine, we organize an online consultation from the first and second week’s topics. The consultation is not obligatory. Of course, all of You are welcome to the consultation. Given the pandemic situation, additional zoom consultations are also being prepared at weeks 5. 7. 9. 13.

Dates and Zoom URLs:

 

 

 

 

 

Competition


Dear Students,

Congratulations to your points and grades at the competition!
Those who receive grade 5 or 4 at the Genetics and genomics competition:
Please, note that the competition grade will be final after you have received the signature of Genetics and genomics. More than three absences from the practice invalidate the semester, no signature and competition grade is given.

Kind regards,
Dr. Hargita Hegyesi

Neptun code Bonus Score Summa Grade Ranking
EHSYBD 3 56 59 5 I.
ROLE2A 3 55 58 5 II.
F1T87C 3 55 58 5 II.
NHV7RQ 2 56 58 5 II.
P5MOCW 3 54 57 5  
V11PI8 2 55 57 5  
W9B5YT 3 52 55 5  
A8NDTF 3 52 55 5  
A2G41I 3 51 54 5  
DBGWLT 3 50 53 5  
H2T76D 2 51 53 5  
N2L0Y2 3 49 52 5  
ZA7N43 3 49 52 5  
J6EMME 2 50 52 5  
BT3CMD 2 49 51 4  
AETWG8 3 47 50 4  
Z2EQC3 3 47 50 4  
YAUI7D 3 47 50 4  
R2ZYS2 3 46 49 4  
L2XYE4 3 46 49 4  
FLIFUO 3 46 49 4  
QU1OS1 2 47 49 4  
JQWT4E 3 45 48 4  
BFPR7H 2 46 48 4  
UM3AMU 2 46 48 4  
VZNBG7 3 44 47 4  
ZW3SVX 3 44 47 4  
EIAUZ8 3 44 47 4  
EU41PV 2 45 47 4  
P4VQ2V 2 45 47 4  
AB6NR0 2 45 47 4  
OIH28W 2 44 46 4  
K9Q393 2 44 46 4  
EDIMY0 3 43 46 4  
X242RZ 2 44 46 4  
YGQ3SB 2 44 46 4  
C9SY15 2 44 46 4  
C1LVGT 3 41 44 -  
ITS6WU 2 42 44 -  
GOR838 2 42 44 -  
G8FFO1 2 42 44 -  
ZIJXYD 2 42 44 -  
U69TL6 2 42 44 -  
PC5D14 2 42 44 -  
YOB607 2 42 44 -  
A9GU9G 2 41 43 -  
JL7IK1 2 41 43 -  
Q7H25O 3 39 42 -  
FGI5S1 2 40 42 -  
OPO6IP 2 40 42 -  
SS6AZI 2 39 41 -  
B4TDUT 2 39 41 -  
K4000B 3 37 40 -  
CQ8962 2 38 40 -  
IIE61E 2 38 40 -  
PN3R4I 2 37 39 -  
QTRL40 3 35 38 -  
F0D8HY 2 34 36 -  
FMXYPR 2 27 29 -  

 

---
Dear Student!

Competition (written) will be on the 13th week, every student with 2 bonus scores (calculated from the two midterms and lecture points) will be invited by Neptun message.

Place: NET L13-16;  Date: 5th of May. 2022 (Thursday)  17:30-18:30 or 18:30-19:30

For taking the competition, students have to prove their identity by an official formal personal document with a photo (i.e. passport, student card).

The competition will be in personal attendance, 45 min. long Moodle test for maximum 60 scores. Bonus points are only credited to those who have more than 50 % of the test scores (31 out of 60). The final competition grade will be calculated from the sum of test scores and bonus scores (if the exam scores are above 31).

Students with a result above 46 points will be offered an exam grade.

 

Total score:
Test points + total bonus scores  

Grade

0-30 
31-37
38-45
46-52
53-60

1
2
3
4
5

 

                             

 

 

 

 

 

Summary of midterm and lecture points: pdf

 

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