Unravelling the genetic component of male infertility Alexandra Lopes

48 Pages·2016·3.15 MB·English

Unravelling the genetic component
of
male infertility
Alexandra Lopes
May 2015
Researcher @ Pop Genetics, i3S/IPATIMUP
Nov. 2011
Postdoc fellow @ Pop Genetics & Dep. Genetics, WUSTL, USA
May 2010
PI: “Search for genomic structural variants in azoospermia: a study in the
Portuguese population”, IPATIMUP
2007-2011
Postdoc fellow @ Pop Genetics & Mammalian Mol. Genetics lab
U. Cambridge, UK
2002 – 2006
PhD student @ Pop Genetics lab, IPATIMUP, PT
2001
Biology degree, FCUP, PT
X & Y
BIOLOGY
Nabeel Affara
Lounes Chikhi Cambridge, UK
IGC
POPULATION
CHR. FUNCTIONAL EPIGENETICS
GENETICS
REARRANG. GENOMICS X-INACT.
& EVOLUTION
António
Amorim
Laura Carrel
IPATIMUP
João Alves REPROD.
Penn State
GABBA PhD BIOLOGY
Ana Lima Don Conrad Catarina Seabra
GABBA PhD WUSTL UA MSc
Genetics of Male Infertility Initiative
(GEMINI)
International consortium to study the genetics of male infertility
Analysis of large number of patients by high density arrays and
exome sequencing

Genetics wiki
DNA

Human Chromosomes
Single base variant
Single Nucleotide Polymorphism (SNPs)
• Change a single DNA letter
• Most frequent genetic
variant
• 1 per 300 base pairs
• Common (MAF>5%)
• Less common (1-5%)
• Rare ‘variants’ (<1%)
•“SNV”